Article
Two novel CAV3 gene mutations in Japanese families.
Neuromuscular disorders : NMD - 1 Dec 2004
Sugie Kazuma, Murayama Kumiko, Noguchi Satoru, Murakami Nobuyuki, Mochizuki Mika, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichizo
Abstract excerpt
Caveolin-3 deficiency is a rare, autosomal dominant, muscle disorder caused by caveolin-3 gene (CAV3) mutations and consists of four clinical phenotypes: limb-girdle muscular dystrophy type 1C (LGMD-1C), rippling muscle disease, distal myopathy, and familial hyperCKemia. So far, only 13 mutations have been reported. We here report two novel heterozygous mutations, 96C>G (N32K) and 128T>A (V43E), in the CAV3 gene...
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