AustralieFrV1, Main, Merge, bibRecord, 009E60

Nemaline myopathy caused by absence of α-skeletal muscle actin

Identifieur interne : 009E60 ( Main/Merge ); précédent : 009E59; suivant : 009E61

Nemaline 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.

RBID : Pascal:07-0149175

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Myopathie némaline, Muscle strié.

English descriptors

KwdEn :
- Nemaline myopathy, Nervous system diseases, Striated muscle.

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.

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Pascal:07-0149175

Le document en format XML

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<author><name sortKey="Jayawant, Sandeep S" sort="Jayawant, Sandeep S" uniqKey="Jayawant S" first="Sandeep S." last="Jayawant">Sandeep S. Jayawant</name>
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<author><name sortKey="Mountford, Roger C" sort="Mountford, Roger C" uniqKey="Mountford R" first="Roger C." last="Mountford">Roger C. Mountford</name>
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<author><name sortKey="Clement, Sophie" sort="Clement, Sophie" uniqKey="Clement S" first="Sophie" last="Clement">Sophie Clement</name>
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<author><name sortKey="Barois, Annie" sort="Barois, Annie" uniqKey="Barois A" first="Annie" last="Barois">Annie Barois</name>
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<author><name sortKey="Muntoni, Francesco" sort="Muntoni, Francesco" uniqKey="Muntoni F" first="Francesco" last="Muntoni">Francesco Muntoni</name>
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<author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name>
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<wicri:noRegion>Groupe Hospitalier Pitié-Salpêtrière</wicri:noRegion>
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<affiliation wicri:level="3"><inist:fA14 i1="16"><s1>Universiti Pierre et Marie Curie (UPMC-Paris 6)</s1>
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<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>
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<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>
<wicri:noRegion>Nedlands, 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"><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>
<wicri:noRegion>Oswestry</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><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>
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<region type="country">Angleterre</region>
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</placeName>
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<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>
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<author><name sortKey="Squier, Waney" sort="Squier, Waney" uniqKey="Squier W" first="Waney" last="Squier">Waney Squier</name>
<affiliation wicri:level="3"><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>
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</affiliation>
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<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>
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<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"><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>
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<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"><inist:fA14 i1="08"><s1>Department of Paediatric Neurology, John Radcliffe Hospital</s1>
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<s3>GBR</s3>
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</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>
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<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>
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<country>Royaume-Uni</country>
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</author>
<author><name sortKey="Appleton, Richard E" sort="Appleton, Richard E" uniqKey="Appleton R" first="Richard E." last="Appleton">Richard E. Appleton</name>
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<s3>GBR</s3>
<sZ>10 aut.</sZ>
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<country>Royaume-Uni</country>
<wicri:noRegion>The Roald Dahl Electroencephalogram Unit, Alder Hey Children's Hospital</wicri:noRegion>
</affiliation>
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<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>
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<country>Royaume-Uni</country>
<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"><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>
<wicri:noRegion>Nedlands, 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"><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>
<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"><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>
<wicri:noRegion>Garches</wicri:noRegion>
<wicri:noRegion>Hopital Raymond Poincaré</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"><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>
<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"><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>
<wicri:noRegion>Groupe Hospitalier Pitié-Salpêtrière</wicri:noRegion>
<wicri:noRegion>Institut National de la Santé et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière</wicri:noRegion>
</affiliation>
<affiliation wicri:level="3"><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>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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>
<wicri:noRegion>Nedlands, Western Australia</wicri:noRegion>
</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>
<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>
</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="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 Marie" sort="Childs, Anne Marie" 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>

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Nemaline myopathy caused by absence of α-skeletal muscle actin

Nemaline myopathy caused by absence of α-skeletal muscle actin

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