Nemaline myopathy caused by absence of α‐skeletal muscle actin
Identifieur interne : 009119 ( Main/Exploration ); précédent : 009118; suivant : 009120Nemaline myopathy caused by absence of α‐skeletal muscle actin
Auteurs : Kristen J. Nowak [Australie] ; Caroline A. Sewry [Royaume-Uni] ; Carmen Navarro [Espagne] ; Waney Squier [Royaume-Uni] ; Cristina Reina [Espagne] ; Jose R. Ricoy [Espagne] ; Sandeep S. Jayawant [Royaume-Uni] ; Anne-Marie Childs [Royaume-Uni] ; J. Angus Dobbie [Royaume-Uni] ; Richard E. Appleton [Royaume-Uni] ; Roger C. Mountford [Royaume-Uni] ; Kendall R. Walker [Australie] ; Sophie Clement [Suisse] ; Annie Barois [France] ; Francesco Muntoni [Royaume-Uni] ; Norma B. Romero [France] ; Nigel G. Laing [Australie]Source :
- Annals of Neurology [ 0364-5134 ] ; 2007-02.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Recherche médicale, Neurologie.
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, Nervous system diseases, 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, Striated muscle, 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
Affiliations:
- Australie, Espagne, France, Royaume-Uni, Suisse
- Angleterre, Communauté de Madrid, Grand Londres, Oxfordshire, Île-de-France
- Londres, Madrid, Oxford, Paris
- Université Pierre-et-Marie-Curie
Links toward previous steps (curation, corpus...)
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- to stream PascalFrancis, to step Corpus: 003D52
- to stream PascalFrancis, to step Curation: 002336
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Le document en format XML
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Nowak</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry</wicri:regionArea><wicri:noRegion>Oswestry</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Navarro, Carmen" sort="Navarro, Carmen" uniqKey="Navarro C" first="Carmen" last="Navarro">Carmen Navarro</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro), Vigo</wicri:regionArea><wicri:noRegion>Vigo</wicri:noRegion></affiliation></author><author><name sortKey="Squier, Waney" sort="Squier, Waney" uniqKey="Squier W" first="Waney" last="Squier">Waney Squier</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neuropathology, Radcliffe Infirmary, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Reina, Cristina" sort="Reina, Cristina" uniqKey="Reina C" first="Cristina" last="Reina">Cristina Reina</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Pediatric Intensive Care Unit, University Hospital of Son Dureta, Palma de Mallorca</wicri:regionArea><wicri:noRegion>Palma de Mallorca</wicri:noRegion></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 wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neuropathology, 12 de Octubre University Hospital, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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 wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Paediatric Neurology, John Radcliffe Hospital, Oxford</wicri:regionArea><placeName><settlement type="city">Oxford</settlement><region type="country">Angleterre</region><region type="comté" nuts="2">Oxfordshire</region></placeName></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The General Infirmary at Leeds</wicri:regionArea></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Yorkshire Regional Genetics Service, St James's Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital</wicri:regionArea><wicri:noRegion>Alder Hey Children's Hospital</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool</wicri:regionArea><wicri:noRegion>Liverpool</wicri:noRegion></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 wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Clement, Sophie" sort="Clement, Sophie" uniqKey="Clement S" first="Sophie" last="Clement">Sophie Clement</name><affiliation wicri:level="1"><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Pathology and Immunology, University of Geneva‐CMU, Geneva</wicri:regionArea><wicri:noRegion>Geneva</wicri:noRegion></affiliation></author><author><name sortKey="Barois, Annie" sort="Barois, Annie" uniqKey="Barois A" first="Annie" last="Barois">Annie Barois</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, Hopital Raymond Poincaré, Garches</wicri:regionArea><wicri:noRegion>Garches</wicri:noRegion><wicri:noRegion>Garches</wicri:noRegion></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié‐Salpêtrière</wicri:regionArea><wicri:noRegion>Groupe Hospitalier Pitié‐Salpêtrière</wicri:noRegion><wicri:noRegion>Groupe Hospitalier Pitié‐Salpêtrière</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Pierre et Marie Curie (UPMC‐Paris 6), Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></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 wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Australie</country></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>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</wicri:regionArea><wicri:noRegion>Western Australia 6009</wicri:noRegion></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>Nervous system diseases</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>Striated muscle</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="Pascal" xml:lang="fr"><term>Muscle strié</term><term>Myopathie némaline</term><term>Système nerveux pathologie</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><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Recherche médicale</term><term>Neurologie</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><affiliations><list><country><li>Australie</li><li>Espagne</li><li>France</li><li>Royaume-Uni</li><li>Suisse</li></country><region><li>Angleterre</li><li>Communauté de Madrid</li><li>Grand Londres</li><li>Oxfordshire</li><li>Île-de-France</li></region><settlement><li>Londres</li><li>Madrid</li><li>Oxford</li><li>Paris</li></settlement><orgName><li>Université Pierre-et-Marie-Curie</li></orgName></list><tree><country name="Australie"><noRegion><name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name></noRegion><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><name sortKey="Walker, Kendall R" sort="Walker, Kendall R" uniqKey="Walker K" first="Kendall R." last="Walker">Kendall R. Walker</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A." last="Sewry">Caroline A. Sewry</name></noRegion><name sortKey="Appleton, Richard E" sort="Appleton, Richard E" uniqKey="Appleton R" first="Richard E." last="Appleton">Richard E. Appleton</name><name sortKey="Childs, Anne Arie" sort="Childs, Anne Arie" uniqKey="Childs A" first="Anne-Marie" last="Childs">Anne-Marie Childs</name><name sortKey="Dobbie, J Angus" sort="Dobbie, J Angus" uniqKey="Dobbie J" first="J. Angus" last="Dobbie">J. Angus Dobbie</name><name sortKey="Jayawant, Sandeep S" sort="Jayawant, Sandeep S" uniqKey="Jayawant S" first="Sandeep S." last="Jayawant">Sandeep S. Jayawant</name><name sortKey="Mountford, Roger C" sort="Mountford, Roger C" uniqKey="Mountford R" first="Roger C." last="Mountford">Roger C. Mountford</name><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A." last="Sewry">Caroline A. Sewry</name><name sortKey="Squier, Waney" sort="Squier, Waney" uniqKey="Squier W" first="Waney" last="Squier">Waney Squier</name></country><country name="Espagne"><noRegion><name sortKey="Navarro, Carmen" sort="Navarro, Carmen" uniqKey="Navarro C" first="Carmen" last="Navarro">Carmen Navarro</name></noRegion><name sortKey="Reina, Cristina" sort="Reina, Cristina" uniqKey="Reina C" first="Cristina" last="Reina">Cristina Reina</name><name sortKey="Ricoy, Jose R" sort="Ricoy, Jose R" uniqKey="Ricoy J" first="Jose R." last="Ricoy">Jose R. Ricoy</name></country><country name="Suisse"><noRegion><name sortKey="Clement, Sophie" sort="Clement, Sophie" uniqKey="Clement S" first="Sophie" last="Clement">Sophie Clement</name></noRegion></country><country name="France"><noRegion><name sortKey="Barois, Annie" sort="Barois, Annie" uniqKey="Barois A" first="Annie" last="Barois">Annie Barois</name></noRegion><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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