AustralieFrV1, Main, Exploration, bibRecord, 00B818

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Identifieur interne : 00B818 ( Main/Exploration ); précédent : 00B817; suivant : 00B819

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Auteurs : H. Jungbluth [Royaume-Uni] ; C. R. Müller [Allemagne] ; B. Halliger-Keller [Allemagne] ; M. Brockington [Royaume-Uni] ; S. C. Brown [Royaume-Uni] ; L. Feng [Royaume-Uni] ; A. Chattopadhyay [Royaume-Uni] ; E. Mercuri [Royaume-Uni] ; A. Y. Manzur [Royaume-Uni] ; A. Ferreiro [France] ; N. G. Laing [Australie] ; M. R. Davis [Australie] ; H. P. Roper [Royaume-Uni] ; V. Dubowitz [Royaume-Uni] ; G. Bydder [Royaume-Uni] ; C. A. Sewry [Royaume-Uni] ; F. Muntoni [Royaume-Uni]

Source :

Neurology [ 0028-3878 ] ; 2002.

RBID : Pascal:02-0460897

Descripteurs français

Pascal (Inist)
- Myopathie multicore, Caractère autosomique, Caractère récessif, Mutation, Liaison génétique, Etude familiale, Physiopathologie, Homme, Gène RYR1.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Autosomal character, Family study, Human, Linkage, Multicore myopathy, Mutation, Pathophysiology, Recessive character.

Abstract

Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy, and confirmed linkage to the RYRI locus. Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYRI gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations.

Affiliations:

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: 005640
to stream PascalFrancis, to step Curation: 000A99
to stream PascalFrancis, to step Checkpoint: 005526
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to stream Main, to step Curation: 00B818

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores</title>
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<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="Chattopadhyay, A" sort="Chattopadhyay, A" uniqKey="Chattopadhyay A" first="A." last="Chattopadhyay">A. Chattopadhyay</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus</s1>
<s2>London</s2>
<s3>GBR</s3>
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<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="Mercuri, E" sort="Mercuri, E" uniqKey="Mercuri E" first="E." last="Mercuri">E. Mercuri</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus</s1>
<s2>London</s2>
<s3>GBR</s3>
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<country>Royaume-Uni</country>
<placeName><settlement type="city">Londres</settlement>
<region type="country">Angleterre</region>
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</placeName>
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</author>
<author><name sortKey="Manzur, A Y" sort="Manzur, A Y" uniqKey="Manzur A" first="A. Y." last="Manzur">A. Y. Manzur</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus</s1>
<s2>London</s2>
<s3>GBR</s3>
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<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="Ferreiro, A" sort="Ferreiro, A" uniqKey="Ferreiro A" first="A." last="Ferreiro">A. Ferreiro</name>
<affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Institut de Myologie, Bâtiment Babinski, Groupe Hospitalier Pitié-Salpêtrière</s1>
<s2>Paris</s2>
<s3>FRA</s3>
<sZ>10 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, N G" sort="Laing, N G" uniqKey="Laing N" first="N. G." last="Laing">N. G. Laing</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Australian Neuromuscular Research Institute, University of Western Australia, QEII Medical Centre</s1>
<s2>Nedlands, Western Australia</s2>
<s3>AUS</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>Nedlands, Western Australia</wicri:noRegion>
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</author>
<author><name sortKey="Davis, M R" sort="Davis, M R" uniqKey="Davis M" first="M. R." last="Davis">M. R. Davis</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Australian Neuromuscular Research Institute, University of Western Australia, QEII Medical Centre</s1>
<s2>Nedlands, Western Australia</s2>
<s3>AUS</s3>
<sZ>11 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>Nedlands, Western Australia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Roper, H P" sort="Roper, H P" uniqKey="Roper H" first="H. P." last="Roper">H. P. Roper</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Child Health, Birmingham Heartlands Hospital</s1>
<s3>GBR</s3>
<sZ>13 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Department of Child Health, Birmingham Heartlands Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dubowitz, V" sort="Dubowitz, V" uniqKey="Dubowitz V" first="V." last="Dubowitz">V. Dubowitz</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus</s1>
<s2>London</s2>
<s3>GBR</s3>
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<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="Bydder, G" sort="Bydder, G" uniqKey="Bydder G" first="G." last="Bydder">G. Bydder</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Robert Steiner MRI Unit, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus</s1>
<s2>London</s2>
<s3>GBR</s3>
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<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="Sewry, C A" sort="Sewry, C A" uniqKey="Sewry C" first="C. A." last="Sewry">C. A. Sewry</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
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<sZ>17 aut.</sZ>
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<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>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Histopathology, Robert Jones and Agnes Hunt Orthopaedic Hospital</s1>
<s2>Oswestry</s2>
<s3>GBR</s3>
<sZ>16 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>Oswestry</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Muntoni, F" sort="Muntoni, F" uniqKey="Muntoni F" first="F." last="Muntoni">F. Muntoni</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Dubowitz Neuromuscular Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus</s1>
<s2>London</s2>
<s3>GBR</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>17 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>
</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2002">2002</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Autosomal character</term>
<term>Family study</term>
<term>Human</term>
<term>Linkage</term>
<term>Multicore myopathy</term>
<term>Mutation</term>
<term>Pathophysiology</term>
<term>Recessive character</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Myopathie multicore</term>
<term>Caractère autosomique</term>
<term>Caractère récessif</term>
<term>Mutation</term>
<term>Liaison génétique</term>
<term>Etude familiale</term>
<term>Physiopathologie</term>
<term>Homme</term>
<term>Gène RYR1</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Central core disease (CCD) is a congenital myopathy due to dominant mutations in the skeletal muscle ryanodine receptor gene (RYR1). The authors report three patients from two consanguineous families with symptoms of a congenital myopathy, cores on muscle biopsy, and confirmed linkage to the RYRI locus. Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYRI gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Bavière</li>
<li>District de Basse-Franconie</li>
<li>Grand Londres</li>
<li>Île-de-France</li>
</region>
<settlement><li>Londres</li>
<li>Paris</li>
<li>Wurtzbourg</li>
</settlement>
<orgName><li>Université de Wurtzbourg</li>
</orgName>
</list>
<tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Jungbluth, H" sort="Jungbluth, H" uniqKey="Jungbluth H" first="H." last="Jungbluth">H. Jungbluth</name>
</region>
<name sortKey="Brockington, M" sort="Brockington, M" uniqKey="Brockington M" first="M." last="Brockington">M. Brockington</name>
<name sortKey="Brown, S C" sort="Brown, S C" uniqKey="Brown S" first="S. C." last="Brown">S. C. Brown</name>
<name sortKey="Bydder, G" sort="Bydder, G" uniqKey="Bydder G" first="G." last="Bydder">G. Bydder</name>
<name sortKey="Chattopadhyay, A" sort="Chattopadhyay, A" uniqKey="Chattopadhyay A" first="A." last="Chattopadhyay">A. Chattopadhyay</name>
<name sortKey="Dubowitz, V" sort="Dubowitz, V" uniqKey="Dubowitz V" first="V." last="Dubowitz">V. Dubowitz</name>
<name sortKey="Feng, L" sort="Feng, L" uniqKey="Feng L" first="L." last="Feng">L. Feng</name>
<name sortKey="Manzur, A Y" sort="Manzur, A Y" uniqKey="Manzur A" first="A. Y." last="Manzur">A. Y. Manzur</name>
<name sortKey="Mercuri, E" sort="Mercuri, E" uniqKey="Mercuri E" first="E." last="Mercuri">E. Mercuri</name>
<name sortKey="Muntoni, F" sort="Muntoni, F" uniqKey="Muntoni F" first="F." last="Muntoni">F. Muntoni</name>
<name sortKey="Roper, H P" sort="Roper, H P" uniqKey="Roper H" first="H. P." last="Roper">H. P. Roper</name>
<name sortKey="Sewry, C A" sort="Sewry, C A" uniqKey="Sewry C" first="C. A." last="Sewry">C. A. Sewry</name>
<name sortKey="Sewry, C A" sort="Sewry, C A" uniqKey="Sewry C" first="C. A." last="Sewry">C. A. Sewry</name>
</country>
<country name="Allemagne"><region name="Bavière"><name sortKey="Muller, C R" sort="Muller, C R" uniqKey="Muller C" first="C. R." last="Müller">C. R. Müller</name>
</region>
<name sortKey="Halliger Keller, B" sort="Halliger Keller, B" uniqKey="Halliger Keller B" first="B." last="Halliger-Keller">B. Halliger-Keller</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Ferreiro, A" sort="Ferreiro, A" uniqKey="Ferreiro A" first="A." last="Ferreiro">A. Ferreiro</name>
</region>
</country>
<country name="Australie"><noRegion><name sortKey="Laing, N G" sort="Laing, N G" uniqKey="Laing N" first="N. G." last="Laing">N. G. Laing</name>
</noRegion>
<name sortKey="Davis, M R" sort="Davis, M R" uniqKey="Davis M" first="M. R." last="Davis">M. R. Davis</name>
</country>
</tree>
</affiliations>
</record>

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Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

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