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

被引：106
作者：
Jungbluth, H
Müller, CR
Halliger-Keller, B
Brockington, M
Brown, SC
Feng, L
Chattopadhyay, A
Mercuri, E
Manzur, AY
Ferreiro, A
Laing, NG
Davis, MR
Roper, HP
Dubowitz, V
Bydder, G
Sewry, CA
Muntoni, F
机构：
[1] Univ London Imperial Coll Sci & Technol, Fac Med, Dubowitz Neuromuscular Ctr, London W12 0NN, England
[2] Univ London Imperial Coll Sci & Technol, Fac Med, Robert Steiner MRI Unit, London W12 0NN, England
[3] Birmingham Heartlands Hosp, Dept Child Hlth, Birmingham B9 5ST, W Midlands, England
[4] Robert Jones & Agnes Hunt Orthopaed Hosp, Dept Histopathol, Oswestry SY10 7AG, Shrops, England
[5] Univ Wurzburg, Inst Humangenet, Biozentrum, D-97070 Wurzburg, Germany
[6] Grp Hosp Pitie Salpetriere, Inst Myol, F-75634 Paris, France
[7] Univ Western Australia, QEII Med Ctr, Australian Neuromuscular Res Inst, Nedlands, WA 6009, Australia
来源：
NEUROLOGY | 2002年 / 59卷 / 02期
关键词：
D O I：
10.1212/WNL.59.2.284
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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 RYR1 locus. Molecular genetic studies in one family identified a V4849I homozygous missense mutation in the RYR1 gene. This report suggests a congenital myopathy associated with recessive RYR1 mutations.
引用
收藏
页码：284 / 287
页数：4
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