Nemaline myopathy caused by absence of α‐skeletal muscle actin
Identifieur interne : 001077 ( Istex/Corpus ); précédent : 001076; suivant : 001078Nemaline myopathy caused by absence of α‐skeletal muscle actin
Auteurs : Kristen J. Nowak ; Caroline A. Sewry ; Carmen Navarro ; Waney Squier ; Cristina Reina ; Jose R. Ricoy ; Sandeep S. Jayawant ; Anne-Marie Childs ; J. Angus Dobbie ; Richard E. Appleton ; Roger C. Mountford ; Kendall R. Walker ; Sophie Clement ; Annie Barois ; Francesco Muntoni ; Norma B. Romero ; Nigel G. LaingSource :
- Annals of Neurology [ 0364-5134 ] ; 2007-02.
English descriptors
- KwdEn :
- Acta1, Acta1 mutation, Acta1 mutations, Actin, Biopsy, Cardiac, Cardiac actin, Codon, Complete absence, Disord, Electron microscopy, Filament, Flexion, Isoform, Laing, Medical research, Minimal support, Missense mutations, Muscle biopsies, Muscle biopsy, Mutation, Myopathy, Nemaline, Nemaline bodies, Nemaline myopathy, Nemaline myopathy patients, Nemaline rods, Neurology, Neuromuscul, Neuromuscul disord, Nowak, Pakistani, Phenotype, Primary antibodies, Recessive, Sarcomeric, Sigma, Skeletal, Skeletal muscle, Skeletal muscle actin, Skeletal muscle actin gene, Skeletal muscle actin protein, Smooth muscle actin, Thick filaments, Thin filaments, Total protein, Upper limbs, Western australia, Zebra, Zebra bodies.
- Teeft :
- Acta1, Acta1 mutation, Acta1 mutations, Actin, Biopsy, Cardiac, Cardiac actin, Codon, Complete absence, Disord, Electron microscopy, Filament, Flexion, Isoform, Laing, Medical research, Minimal support, Missense mutations, Muscle biopsies, Muscle biopsy, Mutation, Myopathy, Nemaline, Nemaline bodies, Nemaline myopathy, Nemaline myopathy patients, Nemaline rods, Neurology, Neuromuscul, Neuromuscul disord, Nowak, Pakistani, Phenotype, Primary antibodies, Recessive, Sarcomeric, Sigma, Skeletal, Skeletal muscle, Skeletal muscle actin, Skeletal muscle actin gene, Skeletal muscle actin protein, Smooth muscle actin, Thick filaments, Thin filaments, Total protein, Upper limbs, Western australia, Zebra, Zebra bodies.
Abstract
To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator‐dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected.
Url:
DOI: 10.1002/ana.21035
Links to Exploration step
ISTEX:58D146E5898B487F270BDB2A1A20ED42E8EF7938Le document en format XML
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Walker</name><affiliation><mods:affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</mods:affiliation></affiliation></author><author><name sortKey="Clement, Sophie" sort="Clement, Sophie" uniqKey="Clement S" first="Sophie" last="Clement">Sophie Clement</name><affiliation><mods:affiliation>Department of Pathology and Immunology, University of Geneva‐CMU, Geneva, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Barois, Annie" sort="Barois, Annie" uniqKey="Barois A" first="Annie" last="Barois">Annie Barois</name><affiliation><mods:affiliation>Service de Pédiatrie, Hopital Raymond Poincaré, Garches, France</mods:affiliation></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation><mods:affiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation><mods:affiliation>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie (UPMC‐Paris 6), Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><mods:affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: nlaing@cyllene.uwa.edu.au</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:58D146E5898B487F270BDB2A1A20ED42E8EF7938</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/ana.21035</idno><idno type="url">https://api.istex.fr/document/58D146E5898B487F270BDB2A1A20ED42E8EF7938/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001077</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001077</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Nemaline myopathy caused by absence of α‐skeletal muscle actin</title><author><name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name><affiliation><mods:affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</mods:affiliation></affiliation></author><author><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A." last="Sewry">Caroline A. Sewry</name><affiliation><mods:affiliation>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, United Kingdom</mods:affiliation></affiliation><affiliation><mods:affiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Navarro, Carmen" sort="Navarro, Carmen" uniqKey="Navarro C" first="Carmen" last="Navarro">Carmen Navarro</name><affiliation><mods:affiliation>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro), Vigo, Spain</mods:affiliation></affiliation></author><author><name sortKey="Squier, Waney" sort="Squier, Waney" uniqKey="Squier W" first="Waney" last="Squier">Waney Squier</name><affiliation><mods:affiliation>Department of Neuropathology, Radcliffe Infirmary, Oxford, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Reina, Cristina" sort="Reina, Cristina" uniqKey="Reina C" first="Cristina" last="Reina">Cristina Reina</name><affiliation><mods:affiliation>Pediatric Intensive Care Unit, University Hospital of Son Dureta, Palma de Mallorca, Spain</mods:affiliation></affiliation></author><author><name sortKey="Ricoy, Jose R" sort="Ricoy, Jose R" uniqKey="Ricoy J" first="Jose R." last="Ricoy">Jose R. Ricoy</name><affiliation><mods:affiliation>Department of Neuropathology, 12 de Octubre University Hospital, Madrid, Spain</mods:affiliation></affiliation></author><author><name sortKey="Jayawant, Sandeep S" sort="Jayawant, Sandeep S" uniqKey="Jayawant S" first="Sandeep S." last="Jayawant">Sandeep S. Jayawant</name><affiliation><mods:affiliation>Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Childs, Anne Arie" sort="Childs, Anne Arie" uniqKey="Childs A" first="Anne-Marie" last="Childs">Anne-Marie Childs</name><affiliation><mods:affiliation>The General Infirmary at Leeds, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Dobbie, J Angus" sort="Dobbie, J Angus" uniqKey="Dobbie J" first="J. Angus" last="Dobbie">J. Angus Dobbie</name><affiliation><mods:affiliation>Yorkshire Regional Genetics Service, St James's Hospital, Leeds, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Appleton, Richard E" sort="Appleton, Richard E" uniqKey="Appleton R" first="Richard E." last="Appleton">Richard E. Appleton</name><affiliation><mods:affiliation>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Mountford, Roger C" sort="Mountford, Roger C" uniqKey="Mountford R" first="Roger C." last="Mountford">Roger C. Mountford</name><affiliation><mods:affiliation>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Walker, Kendall R" sort="Walker, Kendall R" uniqKey="Walker K" first="Kendall R." last="Walker">Kendall R. Walker</name><affiliation><mods:affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</mods:affiliation></affiliation></author><author><name sortKey="Clement, Sophie" sort="Clement, Sophie" uniqKey="Clement S" first="Sophie" last="Clement">Sophie Clement</name><affiliation><mods:affiliation>Department of Pathology and Immunology, University of Geneva‐CMU, Geneva, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Barois, Annie" sort="Barois, Annie" uniqKey="Barois A" first="Annie" last="Barois">Annie Barois</name><affiliation><mods:affiliation>Service de Pédiatrie, Hopital Raymond Poincaré, Garches, France</mods:affiliation></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation><mods:affiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</mods:affiliation></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation><mods:affiliation>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, France</mods:affiliation></affiliation><affiliation><mods:affiliation>Université Pierre et Marie Curie (UPMC‐Paris 6), Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><mods:affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: nlaing@cyllene.uwa.edu.au</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Annals of Neurology</title><title level="j" type="alt">ANNALS OF NEUROLOGY</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><biblScope unit="vol">61</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="175">175</biblScope><biblScope unit="page" to="184">184</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-02">2007-02</date></imprint><idno type="ISSN">0364-5134</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acta1</term><term>Acta1 mutation</term><term>Acta1 mutations</term><term>Actin</term><term>Biopsy</term><term>Cardiac</term><term>Cardiac actin</term><term>Codon</term><term>Complete absence</term><term>Disord</term><term>Electron microscopy</term><term>Filament</term><term>Flexion</term><term>Isoform</term><term>Laing</term><term>Medical research</term><term>Minimal support</term><term>Missense mutations</term><term>Muscle biopsies</term><term>Muscle biopsy</term><term>Mutation</term><term>Myopathy</term><term>Nemaline</term><term>Nemaline bodies</term><term>Nemaline myopathy</term><term>Nemaline myopathy patients</term><term>Nemaline rods</term><term>Neurology</term><term>Neuromuscul</term><term>Neuromuscul disord</term><term>Nowak</term><term>Pakistani</term><term>Phenotype</term><term>Primary antibodies</term><term>Recessive</term><term>Sarcomeric</term><term>Sigma</term><term>Skeletal</term><term>Skeletal muscle</term><term>Skeletal muscle actin</term><term>Skeletal muscle actin gene</term><term>Skeletal muscle actin protein</term><term>Smooth muscle actin</term><term>Thick filaments</term><term>Thin filaments</term><term>Total protein</term><term>Upper limbs</term><term>Western australia</term><term>Zebra</term><term>Zebra bodies</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Acta1</term><term>Acta1 mutation</term><term>Acta1 mutations</term><term>Actin</term><term>Biopsy</term><term>Cardiac</term><term>Cardiac actin</term><term>Codon</term><term>Complete absence</term><term>Disord</term><term>Electron microscopy</term><term>Filament</term><term>Flexion</term><term>Isoform</term><term>Laing</term><term>Medical research</term><term>Minimal support</term><term>Missense mutations</term><term>Muscle biopsies</term><term>Muscle biopsy</term><term>Mutation</term><term>Myopathy</term><term>Nemaline</term><term>Nemaline bodies</term><term>Nemaline myopathy</term><term>Nemaline myopathy patients</term><term>Nemaline rods</term><term>Neurology</term><term>Neuromuscul</term><term>Neuromuscul disord</term><term>Nowak</term><term>Pakistani</term><term>Phenotype</term><term>Primary antibodies</term><term>Recessive</term><term>Sarcomeric</term><term>Sigma</term><term>Skeletal</term><term>Skeletal muscle</term><term>Skeletal muscle actin</term><term>Skeletal muscle actin gene</term><term>Skeletal muscle actin protein</term><term>Smooth muscle actin</term><term>Thick filaments</term><term>Thin filaments</term><term>Total protein</term><term>Upper limbs</term><term>Western australia</term><term>Zebra</term><term>Zebra bodies</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator‐dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>actin</json:string><json:string>mutation</json:string><json:string>nemaline</json:string><json:string>myopathy</json:string><json:string>cardiac actin</json:string><json:string>acta1</json:string><json:string>cardiac</json:string><json:string>skeletal muscle actin</json:string><json:string>skeletal muscle</json:string><json:string>nowak</json:string><json:string>codon</json:string><json:string>nemaline myopathy</json:string><json:string>recessive</json:string><json:string>nemaline bodies</json:string><json:string>laing</json:string><json:string>neuromuscul</json:string><json:string>disord</json:string><json:string>isoform</json:string><json:string>sarcomeric</json:string><json:string>flexion</json:string><json:string>biopsy</json:string><json:string>phenotype</json:string><json:string>neuromuscul disord</json:string><json:string>neurology</json:string><json:string>skeletal muscle actin protein</json:string><json:string>upper limbs</json:string><json:string>skeletal muscle actin gene</json:string><json:string>pakistani</json:string><json:string>filament</json:string><json:string>western australia</json:string><json:string>acta1 mutations</json:string><json:string>muscle biopsies</json:string><json:string>total protein</json:string><json:string>electron microscopy</json:string><json:string>medical research</json:string><json:string>primary antibodies</json:string><json:string>missense mutations</json:string><json:string>complete absence</json:string><json:string>zebra bodies</json:string><json:string>thin filaments</json:string><json:string>zebra</json:string><json:string>sigma</json:string><json:string>nemaline myopathy patients</json:string><json:string>nemaline rods</json:string><json:string>smooth muscle actin</json:string><json:string>acta1 mutation</json:string><json:string>minimal support</json:string><json:string>thick filaments</json:string><json:string>muscle biopsy</json:string><json:string>skeletal</json:string><json:string>spanish gypsy patient</json:string><json:string>cryostat sections</json:string><json:string>first time</json:string><json:string>actin protein</json:string><json:string>peripheral blood</json:string><json:string>congenital myopathy</json:string><json:string>clinical features</json:string><json:string>pakistani origin</json:string><json:string>neonatal period</json:string><json:string>chest infections</json:string><json:string>lower limbs</json:string><json:string>actin mutations</json:string><json:string>regional genetics service</json:string><json:string>finger flexion contractures</json:string><json:string>skeletal muscle function</json:string><json:string>small amount</json:string><json:string>oral food</json:string><json:string>british pakistani</json:string><json:string>initiator methionine</json:string><json:string>muscle fiber atrophy</json:string><json:string>hexagonal arrangement</json:string><json:string>university hospital</json:string><json:string>western australian institute</json:string><json:string>western blot analysis</json:string><json:string>thin filament proteins</json:string><json:string>total actin</json:string><json:string>null mutations</json:string><json:string>french gypsy patient</json:string><json:string>nonsense mutation</json:string><json:string>spontaneous movement</json:string><json:string>single base deletion</json:string><json:string>gujarati patients</json:string><json:string>predominant actin isoform</json:string><json:string>other patients</json:string><json:string>homozygous nonsense mutation</json:string><json:string>frameshift mutation</json:string><json:string>amino acid residues</json:string><json:string>skeletal muscles</json:string><json:string>homozygous mice</json:string><json:string>cardiac actin mice</json:string><json:string>alternative actin isoform</json:string><json:string>skeletal muscle gene</json:string><json:string>actin myopathy</json:string><json:string>intranuclear rods</json:string><json:string>recessive nemaline myopathy</json:string><json:string>french gypsy</json:string><json:string>gomori trichrome</json:string><json:string>acta1 nemaline myopathy</json:string></teeft></keywords><author><json:item><name>Kristen J. Nowak PhD</name><affiliations><json:string>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</json:string></affiliations></json:item><json:item><name>Caroline A. Sewry PhD, FRCPath</name><affiliations><json:string>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, United Kingdom</json:string><json:string>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Carmen Navarro MD, PhD</name><affiliations><json:string>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro), Vigo, Spain</json:string></affiliations></json:item><json:item><name>Waney Squier BSc, FRCP, FRCPath</name><affiliations><json:string>Department of Neuropathology, Radcliffe Infirmary, Oxford, United Kingdom</json:string></affiliations></json:item><json:item><name>Cristina Reina MD</name><affiliations><json:string>Pediatric Intensive Care Unit, University Hospital of Son Dureta, Palma de Mallorca, Spain</json:string></affiliations></json:item><json:item><name>Jose R. Ricoy MD, PhD</name><affiliations><json:string>Department of Neuropathology, 12 de Octubre University Hospital, Madrid, Spain</json:string></affiliations></json:item><json:item><name>Sandeep S. Jayawant MD, MRCP(UK), FRCPCH</name><affiliations><json:string>Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, United Kingdom</json:string></affiliations></json:item><json:item><name>Anne‐Marie Childs MBChB, BSc, MRCP, FRCPCH</name><affiliations><json:string>The General Infirmary at Leeds, United Kingdom</json:string></affiliations></json:item><json:item><name>J. Angus Dobbie PhD, MRCP</name><affiliations><json:string>Yorkshire Regional Genetics Service, St James's Hospital, Leeds, United Kingdom</json:string></affiliations></json:item><json:item><name>Richard E. Appleton MBBS, MA(Oxon), DCH, FRCP, FRCPCH</name><affiliations><json:string>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital, United Kingdom</json:string></affiliations></json:item><json:item><name>Roger C. Mountford BSc</name><affiliations><json:string>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom</json:string></affiliations></json:item><json:item><name>Kendall R. Walker PhD</name><affiliations><json:string>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</json:string></affiliations></json:item><json:item><name>Sophie Clement PhD</name><affiliations><json:string>Department of Pathology and Immunology, University of Geneva‐CMU, Geneva, Switzerland</json:string></affiliations></json:item><json:item><name>Annie Barois MD</name><affiliations><json:string>Service de Pédiatrie, Hopital Raymond Poincaré, Garches, France</json:string></affiliations></json:item><json:item><name>Francesco Muntoni MD</name><affiliations><json:string>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</json:string></affiliations></json:item><json:item><name>Norma B. Romero MD, PhD</name><affiliations><json:string>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, France</json:string><json:string>Université Pierre et Marie Curie (UPMC‐Paris 6), Paris, France</json:string></affiliations></json:item><json:item><name>Nigel G. Laing PhD</name><affiliations><json:string>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</json:string><json:string>E-mail: nlaing@cyllene.uwa.edu.au</json:string><json:string>Correspondence address: Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</json:string></affiliations></json:item></author><articleId><json:string>ANA21035</json:string></articleId><arkIstex>ark:/67375/WNG-6LTGSFBW-Z</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator‐dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected.</abstract><qualityIndicators><score>7.612</score><pdfWordCount>5237</pdfWordCount><pdfCharCount>35201</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>10</pdfPageCount><pdfPageSize>594 x 783 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>51</abstractWordCount><abstractCharCount>355</abstractCharCount><keywordCount>0</keywordCount></qualityIndicators><title>Nemaline myopathy caused by absence of α‐skeletal muscle actin</title><pmid><json:string>17187373</json:string></pmid><genre><json:string>article</json:string></genre><host><title>Annals of Neurology</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1531-8249</json:string></doi><issn><json:string>0364-5134</json:string></issn><eissn><json:string>1531-8249</json:string></eissn><publisherId><json:string>ANA</json:string></publisherId><volume>61</volume><issue>2</issue><pages><first>175</first><last>184</last><total>10</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Original Article</value></json:item></subject></host><namedEntities><unitex><date><json:string>2007</json:string></date><geogName></geogName><orgName><json:string>Department of Pathology and Immunology</json:string><json:string>District Hospital NHS Trust, Oswestry</json:string><json:string>Octubre University Hospital, Madrid, Spain</json:string><json:string>University of Western Australia Human Research Ethics Committee</json:string><json:string>UK Pakistani and Gujarati patients</json:string><json:string>National Diagnostics, Manville, NJ</json:string><json:string>Adobe Systems, Mountain View</json:string><json:string>University Hospital of Son Dureta, Palma</json:string><json:string>Department of Pathology and Neuropathology</json:string><json:string>Hammersmith Hospital Campus, London, United Kingdom</json:string><json:string>UK Gujarati Indian</json:string><json:string>Research Diagnostics, Minneapolis, MN Sigma, St</json:string><json:string>Wiley-Liss, Inc.</json:string><json:string>UK Pakistani</json:string><json:string>University Hospital of Vigo</json:string><json:string>Australian National Health and Medical Research</json:string><json:string>International Consortium on Nemaline Myopathy</json:string><json:string>American Neurological Association Published</json:string><json:string>Department of Neuropathology, Radcliffe Infirmary, Oxford, United Kingdom</json:string><json:string>Department of Neuropathology</json:string><json:string>Medical Research, University of Western Australia, Western Australian Institute for Medical Research</json:string><json:string>St James’s Hospital, Leeds</json:string><json:string>Senior Research Fellowship</json:string><json:string>NHS Foundation Trust, Liverpool, United Kingdom</json:string><json:string>University of Geneva</json:string><json:string>Department of Paediatric Neurology, John Radcliffe Hospital, Oxford</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Pitie-Salpetriere</json:string><json:string>Ann Neurol</json:string><json:string>Neuromuscular Disorders</json:string><json:string>Roger C. Mountford</json:string><json:string>Francesco Muntoni</json:string><json:string>Sophie Clement</json:string><json:string>Robert Jones</json:string><json:string>Annie Barois</json:string><json:string>Martin Fellowship</json:string><json:string>Anne-Marie Childs</json:string><json:string>Dr C. Wallgren-Pettersson</json:string><json:string>Angus Dobbie</json:string><json:string>Laing</json:string><json:string>Jose R. Ricoy</json:string><json:string>Marie Cu</json:string><json:string>Carmen Navarro</json:string><json:string>Norma B. Romero</json:string><json:string>Raymond Poincare</json:string><json:string>Agnes Hunt</json:string><json:string>Sparrow</json:string><json:string>Cristina Reina</json:string><json:string>Kingdom</json:string><json:string>Nigel G. Laing</json:string><json:string>Richard E. Appleton</json:string><json:string>Kendall R. Walker</json:string><json:string>London Faculty</json:string><json:string>S. 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Neurology</json:string></scopus></categories><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/ana.21035</json:string></doi><id>58D146E5898B487F270BDB2A1A20ED42E8EF7938</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/58D146E5898B487F270BDB2A1A20ED42E8EF7938/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/58D146E5898B487F270BDB2A1A20ED42E8EF7938/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/58D146E5898B487F270BDB2A1A20ED42E8EF7938/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Nemaline myopathy caused by absence of α‐skeletal muscle actin</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2006 American Neurological Association</licence></availability><date type="published" when="2007-02"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en">Nemaline myopathy caused by absence of α‐skeletal muscle actin</title><title level="a" type="short" xml:lang="en">Lack of Skeletal Muscle Actin</title><author xml:id="author-0000"><persName><forename type="first">Kristen J.</forename><surname>Nowak</surname><roleName type="degree">PhD</roleName></persName><affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Caroline A.</forename><surname>Sewry</surname><roleName type="degree">PhD, FRCPath</roleName></persName><affiliation>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, United Kingdom<address><country key="GB"></country></address></affiliation><affiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Carmen</forename><surname>Navarro</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro), Vigo, Spain<address><country key="ES"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Waney</forename><surname>Squier</surname><roleName type="degree">BSc, FRCP, FRCPath</roleName></persName><affiliation>Department of Neuropathology, Radcliffe Infirmary, Oxford, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">Cristina</forename><surname>Reina</surname><roleName type="degree">MD</roleName></persName><affiliation>Pediatric Intensive Care Unit, University Hospital of Son Dureta, Palma de Mallorca, Spain<address><country key="ES"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">Jose R.</forename><surname>Ricoy</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Department of Neuropathology, 12 de Octubre University Hospital, Madrid, Spain<address><country key="ES"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Sandeep S.</forename><surname>Jayawant</surname><roleName type="degree">MD, MRCP(UK), FRCPCH</roleName></persName><affiliation>Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Anne‐Marie</forename><surname>Childs</surname><roleName type="degree">MBChB, BSc, MRCP, FRCPCH</roleName></persName><affiliation>The General Infirmary at Leeds, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0008"><persName><forename type="first">J. Angus</forename><surname>Dobbie</surname><roleName type="degree">PhD, MRCP</roleName></persName><affiliation>Yorkshire Regional Genetics Service, St James's Hospital, Leeds, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0009"><persName><forename type="first">Richard E.</forename><surname>Appleton</surname><roleName type="degree">MBBS, MA(Oxon), DCH, FRCP, FRCPCH</roleName></persName><affiliation>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0010"><persName><forename type="first">Roger C.</forename><surname>Mountford</surname><roleName type="degree">BSc</roleName></persName><affiliation>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0011"><persName><forename type="first">Kendall R.</forename><surname>Walker</surname><roleName type="degree">PhD</roleName></persName><affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0012"><persName><forename type="first">Sophie</forename><surname>Clement</surname><roleName type="degree">PhD</roleName></persName><affiliation>Department of Pathology and Immunology, University of Geneva‐CMU, Geneva, Switzerland<address><country key="CH"></country></address></affiliation></author><author xml:id="author-0013"><persName><forename type="first">Annie</forename><surname>Barois</surname><roleName type="degree">MD</roleName></persName><affiliation>Service de Pédiatrie, Hopital Raymond Poincaré, Garches, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0014"><persName><forename type="first">Francesco</forename><surname>Muntoni</surname><roleName type="degree">MD</roleName></persName><affiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom<address><country key="GB"></country></address></affiliation></author><author xml:id="author-0015"><persName><forename type="first">Norma B.</forename><surname>Romero</surname><roleName type="degree">MD, PhD</roleName></persName><affiliation>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, France<address><country key="FR"></country></address></affiliation><affiliation>Université Pierre et Marie Curie (UPMC‐Paris 6), Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0016" role="corresp"><persName><forename type="first">Nigel G.</forename><surname>Laing</surname><roleName type="degree">PhD</roleName></persName><email>nlaing@cyllene.uwa.edu.au</email><affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia<address><country key="AU"></country></address></affiliation><affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</affiliation></author><idno type="istex">58D146E5898B487F270BDB2A1A20ED42E8EF7938</idno><idno type="ark">ark:/67375/WNG-6LTGSFBW-Z</idno><idno type="DOI">10.1002/ana.21035</idno><idno type="unit">ANA21035</idno><idno type="toTypesetVersion">file:ANA.ANA21035.pdf</idno></analytic><monogr><title level="j" type="main">Annals of Neurology</title><title level="j" type="alt">ANNALS OF NEUROLOGY</title><idno type="pISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><idno type="book-DOI">10.1002/(ISSN)1531-8249</idno><idno type="book-part-DOI">10.1002/ana.v61:2</idno><idno type="product">ANA</idno><imprint><biblScope unit="vol">61</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="175">175</biblScope><biblScope unit="page" to="184">184</biblScope><biblScope unit="page-count">10</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-02"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head>
Objective
<p>To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator‐dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected.</p>
Methods
<p>The α‐skeletal muscle actin gene <hi rend="italic">(ACTA1)</hi> was sequenced. Available muscle biopsies were investigated by standard histological and electron microscopic techniques. The expression of various proteins was determined by immunohistochemistry, western blotting, or both.</p>
Results
<p>Three homozygous <hi rend="italic">ACTA1</hi> null mutations were identified: p.Arg41X in the French patient, p.Tyr364fsX in the Spanish patient, and p.Asp181fsX10 in all five British patients. An absence of α‐skeletal muscle actin protein but presence of α‐cardiac actin was shown in all muscle biopsies examined, with more α‐cardiac actin in the biopsy from the child with the greatest muscle function. Muscle biopsies from all patients exhibited nemaline bodies whereas three also contained zebra bodies.</p>
Interpretation
<p>The seven patients have recessive nemaline myopathy caused by absence of α‐skeletal muscle actin. The level of retention of α‐cardiac actin, the skeletal muscle fetal actin isoform, may determine α‐skeletal muscle actin disease severity. This has implications for possible future therapy. 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Institute for Medical Research, Nedlands, Western Australia, Australia</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="ES" type="organization"><unparsedAffiliation>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro), Vigo, Spain</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="GB" type="organization"><unparsedAffiliation>Department of Neuropathology, Radcliffe Infirmary, Oxford, United 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Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af11" countryCode="GB" type="organization"><unparsedAffiliation>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af12" countryCode="GB" type="organization"><unparsedAffiliation>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom</unparsedAffiliation></affiliation><affiliation xml:id="af13" countryCode="CH" type="organization"><unparsedAffiliation>Department of Pathology and Immunology, University of Geneva‐CMU, Geneva, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="af14" countryCode="FR" type="organization"><unparsedAffiliation>Service de Pédiatrie, Hopital Raymond Poincaré, Garches, France</unparsedAffiliation></affiliation><affiliation xml:id="af15" countryCode="FR" type="organization"><unparsedAffiliation>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, France</unparsedAffiliation></affiliation><affiliation xml:id="af16" countryCode="FR" type="organization"><unparsedAffiliation>Université Pierre et Marie Curie (UPMC‐Paris 6), Paris, France</unparsedAffiliation></affiliation></affiliationGroup><fundingInfo><fundingAgency>Australian National Health and Medical Research Council (NH&MRC) CJ Martin Fellowship</fundingAgency><fundingNumber>212086</fundingNumber></fundingInfo><fundingInfo><fundingAgency>NH&MRC Senior Research Fellowship</fundingAgency><fundingNumber>403904</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Fondo de Investigación Sanitaria</fundingAgency><fundingNumber>04‐2702</fundingNumber><fundingNumber>G03‐011</fundingNumber><fundingNumber>AFM 9283</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Muscular Dystrophy Centre Grant</fundingAgency></fundingInfo><fundingInfo><fundingAgency>NSCAG</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Objective</title><p>To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator‐dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected.</p></section><section xml:id="abs1-2"><title type="main">Methods</title><p>The α‐skeletal muscle actin gene <i>(ACTA1)</i> was sequenced. Available muscle biopsies were investigated by standard histological and electron microscopic techniques. The expression of various proteins was determined by immunohistochemistry, western blotting, or both.</p></section><section xml:id="abs1-3"><title type="main">Results</title><p>Three homozygous <i>ACTA1</i> null mutations were identified: p.Arg41X in the French patient, p.Tyr364fsX in the Spanish patient, and p.Asp181fsX10 in all five British patients. An absence of α‐skeletal muscle actin protein but presence of α‐cardiac actin was shown in all muscle biopsies examined, with more α‐cardiac actin in the biopsy from the child with the greatest muscle function. Muscle biopsies from all patients exhibited nemaline bodies whereas three also contained zebra bodies.</p></section><section xml:id="abs1-4"><title type="main">Interpretation</title><p>The seven patients have recessive nemaline myopathy caused by absence of α‐skeletal muscle actin. The level of retention of α‐cardiac actin, the skeletal muscle fetal actin isoform, may determine α‐skeletal muscle actin disease severity. This has implications for possible future therapy. Ann Neurol 2006</p></section></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Nemaline myopathy caused by absence of α‐skeletal muscle actin</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Lack of Skeletal Muscle Actin</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Nemaline myopathy caused by absence of α‐skeletal muscle actin</title></titleInfo><name type="personal"><namePart type="given">Kristen J.</namePart><namePart type="family">Nowak</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Caroline A.</namePart><namePart type="family">Sewry</namePart><namePart type="termsOfAddress">PhD, FRCPath</namePart><affiliation>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, United Kingdom</affiliation><affiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carmen</namePart><namePart type="family">Navarro</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro), Vigo, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Waney</namePart><namePart type="family">Squier</namePart><namePart type="termsOfAddress">BSc, FRCP, FRCPath</namePart><affiliation>Department of Neuropathology, Radcliffe Infirmary, Oxford, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cristina</namePart><namePart type="family">Reina</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Pediatric Intensive Care Unit, University Hospital of Son Dureta, Palma de Mallorca, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jose R.</namePart><namePart type="family">Ricoy</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neuropathology, 12 de Octubre University Hospital, Madrid, Spain</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sandeep S.</namePart><namePart type="family">Jayawant</namePart><namePart type="termsOfAddress">MD, MRCP(UK), FRCPCH</namePart><affiliation>Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anne‐Marie</namePart><namePart type="family">Childs</namePart><namePart type="termsOfAddress">MBChB, BSc, MRCP, FRCPCH</namePart><affiliation>The General Infirmary at Leeds, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. Angus</namePart><namePart type="family">Dobbie</namePart><namePart type="termsOfAddress">PhD, MRCP</namePart><affiliation>Yorkshire Regional Genetics Service, St James's Hospital, Leeds, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Richard E.</namePart><namePart type="family">Appleton</namePart><namePart type="termsOfAddress">MBBS, MA(Oxon), DCH, FRCP, FRCPCH</namePart><affiliation>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Roger C.</namePart><namePart type="family">Mountford</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kendall R.</namePart><namePart type="family">Walker</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Sophie</namePart><namePart type="family">Clement</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Pathology and Immunology, University of Geneva‐CMU, Geneva, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Annie</namePart><namePart type="family">Barois</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service de Pédiatrie, Hopital Raymond Poincaré, Garches, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Francesco</namePart><namePart type="family">Muntoni</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London, United Kingdom</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Norma B.</namePart><namePart type="family">Romero</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière, France</affiliation><affiliation>Université Pierre et Marie Curie (UPMC‐Paris 6), Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nigel G.</namePart><namePart type="family">Laing</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia</affiliation><affiliation>E-mail: nlaing@cyllene.uwa.edu.au</affiliation><affiliation>Correspondence address: Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands, Western Australia 6009, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-02</dateIssued><dateCaptured encoding="w3cdtf">2006-07-22</dateCaptured><dateValid encoding="w3cdtf">2006-10-09</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">4</extent><extent unit="tables">3</extent><extent unit="references">31</extent><extent unit="words">6246</extent></physicalDescription><abstract>To investigate seven congenital myopathy patients from six families: one French Gypsy, one Spanish Gypsy, four British Pakistanis, and one British Indian. Three patients required mechanical ventilation from birth, five died before 22 months, one is ventilator‐dependent, but one, at 30 months, is sitting with minimal support. All parents were unaffected.</abstract><abstract>The α‐skeletal muscle actin gene (ACTA1) was sequenced. Available muscle biopsies were investigated by standard histological and electron microscopic techniques. The expression of various proteins was determined by immunohistochemistry, western blotting, or both.</abstract><abstract>Three homozygous ACTA1 null mutations were identified: p.Arg41X in the French patient, p.Tyr364fsX in the Spanish patient, and p.Asp181fsX10 in all five British patients. An absence of α‐skeletal muscle actin protein but presence of α‐cardiac actin was shown in all muscle biopsies examined, with more α‐cardiac actin in the biopsy from the child with the greatest muscle function. Muscle biopsies from all patients exhibited nemaline bodies whereas three also contained zebra bodies.</abstract><abstract>The seven patients have recessive nemaline myopathy caused by absence of α‐skeletal muscle actin. The level of retention of α‐cardiac actin, the skeletal muscle fetal actin isoform, may determine α‐skeletal muscle actin disease severity. This has implications for possible future therapy. Ann Neurol 2006</abstract><note type="funding">Australian National Health and Medical Research Council (NH&MRC) CJ Martin Fellowship - No. 212086; </note><note type="funding">NH&MRC Senior Research Fellowship - No. 403904; </note><note type="funding">Fondo de Investigación Sanitaria - No. 04‐2702; No. G03‐011; No. AFM 9283; </note><note type="funding">Muscular Dystrophy Centre Grant</note><note type="funding">NSCAG</note><relatedItem type="host"><titleInfo><title>Annals of Neurology</title><subTitle>Official Journal of the American Neurological Association and the Child Neurology Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Ann Neurol.</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><subject><genre>article-category</genre><topic>Original Article</topic></subject><identifier type="ISSN">0364-5134</identifier><identifier type="eISSN">1531-8249</identifier><identifier type="DOI">10.1002/(ISSN)1531-8249</identifier><identifier type="PublisherID">ANA</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>61</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>175</start><end>184</end><total>10</total></extent></part></relatedItem><identifier type="istex">58D146E5898B487F270BDB2A1A20ED42E8EF7938</identifier><identifier type="ark">ark:/67375/WNG-6LTGSFBW-Z</identifier><identifier type="DOI">10.1002/ana.21035</identifier><identifier type="ArticleID">ANA21035</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 American Neurological Association</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/58D146E5898B487F270BDB2A1A20ED42E8EF7938/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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