Caveolin-3 Mutations in Rippling Muscle Disease
نویسندگان
چکیده
منابع مشابه
A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability. We report a 17-year-old patient who presented with muscular hypertrophy, local mounding on percussion, and a rippling phenomenon. Needle electromyography showed electrical silence during the rippling phenomenon. Muscle protein immunohistochemical analysis showed a partial deficiency of cave...
متن کاملNovel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease.
Rippling muscle disease (RMD) is a rare muscle disorder characterised by muscle stiffness, exercise induced myalgia, and cramp-like sensations. It is genetically heterogeneous and can be acquired, but most cases show autosomal dominant inheritance due to mutations in the caveolin-3 (CAV3) gene. We report a novel heterozygous missense mutation in CAV3 in a Belgian family with autosomal dominant ...
متن کاملPhenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.
Four different phenotypes have been associated with CAV3 mutations: limb girdle muscular dystrophy-1C (LGMD-1C), rippling muscle disease (RMD), and distal myopathy (DM), as well as idiopathic and familial hyperCKemia (HCK). Detailed molecular characterization of two caveolin-3 mutations (P104L and DeltaTFT), associated with LGMD-1C, shows them to impart a dominant-negative effect on wild-type c...
متن کاملZebrafish as a model for caveolin-associated muscle disease; caveolin-3 is required for myofibril organization and muscle cell patterning.
Caveolae are an abundant feature of many animal cells. However, the exact function of caveolae remains unclear. We have used the zebrafish, Danio rerio, as a system to understand caveolae function focusing on the muscle-specific caveolar protein, caveolin-3 (Cav3). We have identified caveolin-1 (alpha and beta), caveolin-2 and Cav3 in the zebrafish. Zebrafish Cav3 has 72% identity to human CAV3...
متن کاملElevated Serum Aminotransferases Secondary to Rippling Muscle Disease
A 43-year-old man was referred by his general practitioner to the hepatology clinic with deranged serum aminotransferases, discovered as part of routine blood tests. The objective was to identify the cause of elevated serum aminotransferases in this patient in a systematic manner. Thorough history and physical examination revealed a background history of rippling muscle disease secondary to cav...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2003
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-17-5-7