Nemaline myopathy caused by absence of α-skeletal muscle actin
Identifieur interne : 002336 ( PascalFrancis/Curation ); précédent : 002335; suivant : 002337Nemaline 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.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Objective: 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. Methods: 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. Results: Three homozygous ACTA1 null mutations were identified: p.Arg41X in the French patient, p.Tyr364fsX in the Spanish patient, and p.Aspl81fsX10 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. Interpretation: 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.
| pA |
|
|---|
Links toward previous steps (curation, corpus...)
- to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003D52
Links to Exploration step
Pascal:07-0149175Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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 wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research</s1><s2>Nedlands, Western Australia</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Australie</country></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"><inist:fA14 i1="02"><s1>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust</s1><s2>Oswestry</s2><s3>GBR</s3><sZ>2 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Navarro, Carmen" sort="Navarro, Carmen" uniqKey="Navarro C" first="Carmen" last="Navarro">Carmen Navarro</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro)</s1><s2>Vigo</s2><s3>ESP</s3><sZ>3 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Squier, Waney" sort="Squier, Waney" uniqKey="Squier W" first="Waney" last="Squier">Waney Squier</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neuropathology, Radcliffe Infirmary</s1><s2>Oxford</s2><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Reina, Cristina" sort="Reina, Cristina" uniqKey="Reina C" first="Cristina" last="Reina">Cristina Reina</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Pediatric Intensive Care Unit, University Hospital of Son Dureta</s1><s2>Palma de Mallorca</s2><s3>ESP</s3><sZ>5 aut.</sZ></inist:fA14><country>Espagne</country></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="1"><inist:fA14 i1="07"><s1>Department of Neuropathology, 12 de Octubre University Hospital</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ></inist:fA14><country>Espagne</country></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="1"><inist:fA14 i1="08"><s1>Department of Paediatric Neurology, John Radcliffe Hospital</s1><s2>Oxford</s2><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Childs, Anne Marie" sort="Childs, Anne Marie" uniqKey="Childs A" first="Anne-Marie" last="Childs">Anne-Marie Childs</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>The General Infirmary at Leeds, St James's Hospital</s1><s2>Leeds</s2><s3>GBR</s3><sZ>8 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="10"><s1>Yorkshire Regional Genetics Service, St James's Hospital</s1><s2>Leeds</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="11"><s1>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital</s1><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="12"><s1>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust</s1><s2>Liverpool</s2><s3>GBR</s3><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research</s1><s2>Nedlands, Western Australia</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Clement, Sophie" sort="Clement, Sophie" uniqKey="Clement S" first="Sophie" last="Clement">Sophie Clement</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Pathology and Immunology, University of Geneva-CMU</s1><s2>Geneva</s2><s3>CHE</s3><sZ>13 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Barois, Annie" sort="Barois, Annie" uniqKey="Barois A" first="Annie" last="Barois">Annie Barois</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Service de Pédiatrie, Hopital Raymond Poincaré</s1><s2>Garches</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="15"><s1>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Universiti Pierre et Marie Curie (UPMC-Paris 6)</s1><s2>Paris</s2><s3>FRA</s3><sZ>16 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="01"><s1>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research</s1><s2>Nedlands, Western Australia</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">07-0149175</idno><date when="2007">2007</date><idno type="stanalyst">PASCAL 07-0149175 INIST</idno><idno type="RBID">Pascal:07-0149175</idno><idno type="wicri:Area/PascalFrancis/Corpus">003D52</idno><idno type="wicri:Area/PascalFrancis/Curation">002336</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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 wicri:level="1"><inist:fA14 i1="01"><s1>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research</s1><s2>Nedlands, Western Australia</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Australie</country></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"><inist:fA14 i1="02"><s1>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust</s1><s2>Oswestry</s2><s3>GBR</s3><sZ>2 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Navarro, Carmen" sort="Navarro, Carmen" uniqKey="Navarro C" first="Carmen" last="Navarro">Carmen Navarro</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro)</s1><s2>Vigo</s2><s3>ESP</s3><sZ>3 aut.</sZ></inist:fA14><country>Espagne</country></affiliation></author><author><name sortKey="Squier, Waney" sort="Squier, Waney" uniqKey="Squier W" first="Waney" last="Squier">Waney Squier</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neuropathology, Radcliffe Infirmary</s1><s2>Oxford</s2><s3>GBR</s3><sZ>4 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Reina, Cristina" sort="Reina, Cristina" uniqKey="Reina C" first="Cristina" last="Reina">Cristina Reina</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Pediatric Intensive Care Unit, University Hospital of Son Dureta</s1><s2>Palma de Mallorca</s2><s3>ESP</s3><sZ>5 aut.</sZ></inist:fA14><country>Espagne</country></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="1"><inist:fA14 i1="07"><s1>Department of Neuropathology, 12 de Octubre University Hospital</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ></inist:fA14><country>Espagne</country></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="1"><inist:fA14 i1="08"><s1>Department of Paediatric Neurology, John Radcliffe Hospital</s1><s2>Oxford</s2><s3>GBR</s3><sZ>7 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Childs, Anne Marie" sort="Childs, Anne Marie" uniqKey="Childs A" first="Anne-Marie" last="Childs">Anne-Marie Childs</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>The General Infirmary at Leeds, St James's Hospital</s1><s2>Leeds</s2><s3>GBR</s3><sZ>8 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="10"><s1>Yorkshire Regional Genetics Service, St James's Hospital</s1><s2>Leeds</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="11"><s1>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital</s1><s3>GBR</s3><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="12"><s1>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust</s1><s2>Liverpool</s2><s3>GBR</s3><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="01"><s1>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research</s1><s2>Nedlands, Western Australia</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author><author><name sortKey="Clement, Sophie" sort="Clement, Sophie" uniqKey="Clement S" first="Sophie" last="Clement">Sophie Clement</name><affiliation wicri:level="1"><inist:fA14 i1="13"><s1>Department of Pathology and Immunology, University of Geneva-CMU</s1><s2>Geneva</s2><s3>CHE</s3><sZ>13 aut.</sZ></inist:fA14><country>Suisse</country></affiliation></author><author><name sortKey="Barois, Annie" sort="Barois, Annie" uniqKey="Barois A" first="Annie" last="Barois">Annie Barois</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Service de Pédiatrie, Hopital Raymond Poincaré</s1><s2>Garches</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country></affiliation></author><author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Royaume-Uni</country></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"><inist:fA14 i1="15"><s1>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>16 aut.</sZ></inist:fA14><country>France</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Universiti Pierre et Marie Curie (UPMC-Paris 6)</s1><s2>Paris</s2><s3>FRA</s3><sZ>16 aut.</sZ></inist:fA14><country>France</country></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"><inist:fA14 i1="01"><s1>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research</s1><s2>Nedlands, Western Australia</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Australie</country></affiliation></author></analytic><series><title level="j" type="main">Annals of neurology</title><title level="j" type="abbreviated">Ann. neurol.</title><idno type="ISSN">0364-5134</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Annals of neurology</title><title level="j" type="abbreviated">Ann. neurol.</title><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nemaline myopathy</term><term>Nervous system diseases</term><term>Striated muscle</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Myopathie némaline</term><term>Muscle strié</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Objective: 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. Methods: 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. Results: Three homozygous ACTA1 null mutations were identified: p.Arg41X in the French patient, p.Tyr364fsX in the Spanish patient, and p.Aspl81fsX10 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. Interpretation: 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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0364-5134</s0></fA01><fA02 i1="01"><s0>ANNED3</s0></fA02><fA03 i2="1"><s0>Ann. neurol.</s0></fA03><fA05><s2>61</s2></fA05><fA06><s2>2</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>Nemaline myopathy caused by absence of α-skeletal muscle actin</s1></fA08><fA11 i1="01" i2="1"><s1>NOWAK (Kristen J.)</s1></fA11><fA11 i1="02" i2="1"><s1>SEWRY (Caroline A.)</s1></fA11><fA11 i1="03" i2="1"><s1>NAVARRO (Carmen)</s1></fA11><fA11 i1="04" i2="1"><s1>SQUIER (Waney)</s1></fA11><fA11 i1="05" i2="1"><s1>REINA (Cristina)</s1></fA11><fA11 i1="06" i2="1"><s1>RICOY (Jose R.)</s1></fA11><fA11 i1="07" i2="1"><s1>JAYAWANT (Sandeep S.)</s1></fA11><fA11 i1="08" i2="1"><s1>CHILDS (Anne-Marie)</s1></fA11><fA11 i1="09" i2="1"><s1>DOBBIE (J. Angus)</s1></fA11><fA11 i1="10" i2="1"><s1>APPLETON (Richard E.)</s1></fA11><fA11 i1="11" i2="1"><s1>MOUNTFORD (Roger C.)</s1></fA11><fA11 i1="12" i2="1"><s1>WALKER (Kendall R.)</s1></fA11><fA11 i1="13" i2="1"><s1>CLEMENT (Sophie)</s1></fA11><fA11 i1="14" i2="1"><s1>BAROIS (Annie)</s1></fA11><fA11 i1="15" i2="1"><s1>MUNTONI (Francesco)</s1></fA11><fA11 i1="16" i2="1"><s1>ROMERO (Norma B.)</s1></fA11><fA11 i1="17" i2="1"><s1>LAING (Nigel G.)</s1></fA11><fA14 i1="01"><s1>Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research</s1><s2>Nedlands, Western Australia</s2><s3>AUS</s3><sZ>1 aut.</sZ><sZ>12 aut.</sZ><sZ>17 aut.</sZ></fA14><fA14 i1="02"><s1>Centre for Inherited Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust</s1><s2>Oswestry</s2><s3>GBR</s3><sZ>2 aut.</sZ></fA14><fA14 i1="03"><s1>Dubowitz Neuromuscular Centre, Imperial College London Faculty of Medicine, Hammersmith Hospital Campus</s1><s2>London</s2><s3>GBR</s3><sZ>2 aut.</sZ><sZ>15 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Pathology and Neuropathology, University Hospital of Vigo (Meixoeiro)</s1><s2>Vigo</s2><s3>ESP</s3><sZ>3 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neuropathology, Radcliffe Infirmary</s1><s2>Oxford</s2><s3>GBR</s3><sZ>4 aut.</sZ></fA14><fA14 i1="06"><s1>Pediatric Intensive Care Unit, University Hospital of Son Dureta</s1><s2>Palma de Mallorca</s2><s3>ESP</s3><sZ>5 aut.</sZ></fA14><fA14 i1="07"><s1>Department of Neuropathology, 12 de Octubre University Hospital</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Paediatric Neurology, John Radcliffe Hospital</s1><s2>Oxford</s2><s3>GBR</s3><sZ>7 aut.</sZ></fA14><fA14 i1="09"><s1>The General Infirmary at Leeds, St James's Hospital</s1><s2>Leeds</s2><s3>GBR</s3><sZ>8 aut.</sZ></fA14><fA14 i1="10"><s1>Yorkshire Regional Genetics Service, St James's Hospital</s1><s2>Leeds</s2><s3>GBR</s3><sZ>9 aut.</sZ></fA14><fA14 i1="11"><s1>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital</s1><s3>GBR</s3><sZ>10 aut.</sZ></fA14><fA14 i1="12"><s1>Mersey Regional Genetics Service, Liverpool Women's NHS Foundation Trust</s1><s2>Liverpool</s2><s3>GBR</s3><sZ>11 aut.</sZ></fA14><fA14 i1="13"><s1>Department of Pathology and Immunology, University of Geneva-CMU</s1><s2>Geneva</s2><s3>CHE</s3><sZ>13 aut.</sZ></fA14><fA14 i1="14"><s1>Service de Pédiatrie, Hopital Raymond Poincaré</s1><s2>Garches</s2><s3>FRA</s3><sZ>14 aut.</sZ></fA14><fA14 i1="15"><s1>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière</s1><s3>FRA</s3><sZ>16 aut.</sZ></fA14><fA14 i1="16"><s1>Universiti Pierre et Marie Curie (UPMC-Paris 6)</s1><s2>Paris</s2><s3>FRA</s3><sZ>16 aut.</sZ></fA14><fA20><s1>175-184</s1></fA20><fA21><s1>2007</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>16555</s2><s5>354000143306000110</s5></fA43><fA44><s0>0000</s0><s1>© 2007 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>31 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>07-0149175</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Annals of neurology</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>Objective: 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. Methods: 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. Results: Three homozygous ACTA1 null mutations were identified: p.Arg41X in the French patient, p.Tyr364fsX in the Spanish patient, and p.Aspl81fsX10 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. Interpretation: 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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC02 i1="03" i2="X"><s0>002B02H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Myopathie némaline</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nemaline myopathy</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Miopatía nemalina</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Muscle strié</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Striated muscle</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Músculo estriado</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Maladie congénitale</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Congenital disease</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad congénita</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Muscle strié pathologie</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>39</s5></fC07><fN21><s1>092</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/PascalFrancis/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002336 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 002336 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= PascalFrancis
|étape= Curation
|type= RBID
|clé= Pascal:07-0149175
|texte= Nemaline myopathy caused by absence of α-skeletal muscle actin
}}
| This area was generated with Dilib version V0.6.33. |  |