进行性常染色体隐性肌营养不良中肌肉特异性钙蛋白酶和β-肌聚糖基因的鉴定
Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies.
作者信息
Beckmann J S, Richard I, Broux O, Fougerousse F, Allamand V, Chiannilkulchai N, Lim L E, Duclos F, Bourg N, Brenguier L, Pasturaud P, Quétier F, Roudaut C, Sunada Y, Meyer J, Dinçer P, Lefranc G, Merlini L, Topaloglu H, Tomé F M, Cohen D, Jackson C E, Campbell K P, Fardeau M
机构信息
Généthon/CNRS URA 1992, Evry, France.
出版信息
Neuromuscul Disord. 1996 Dec;6(6):455-62. doi: 10.1016/s0960-8966(96)00386-0.
PMID:9027855
Abstract
The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.
摘要
肢带型肌营养不良的常染色体隐性形式由至少五个不同的基因编码。本报告总结了为鉴定其中两个基因所做的工作。这一成功例证了遗传学在现代疾病分类学中日益重要的地位。
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