Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy

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• 作者：Juliane S. Mü ; ller ; Henriett Piko ; Benedikt G.H. Schoser ; Beate Schlotter-Weigel ; Peter Reilich ; Stefanie Gü ; rster ; Christine Born ; Veronika Karcagi ; Dieter Pongratz ; Hanns Lochmü ; ller and
• 关键词：CAV3 ; Splice site ; LGMD1C ; Autosomal recessive
• 刊名：Neuromuscular Disorders
• 出版年：2006
• 出版时间：July 2006
• 年：2006
• 卷：16
• 期：7
• 页码：432-436
• 全文大小：399 K

文摘

Mutations in CAV3 gene encoding the protein caveolin-3 are associated with autosomal dominant limb girdle muscular dystrophy 1C, rippling muscle disease, hyperCKemia, distal myopathy, hypertrophic cardiomyopathy and rare autosomal recessive limb girdle muscular dystrophy phenotypes. In a 57-year-old patient with asymmetric limb girdle weakness, we detected a novel homozygous intronic mutation (IVS1+2T>C) of the CAV3 gene. This is the first splicing mutation reported for CAV3. These findings add to the clinical and genetic variability of CAV3 mutations.