Two novel CAV3 gene mutations in Japanese families
K Sugie, K Murayama, S Noguchi, N Murakami… - Neuromuscular …, 2004 - Elsevier
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 in two
unrelated Japanese families with LGMD-1C. Both probands presented with elevated serum …
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 in two
unrelated Japanese families with LGMD-1C. Both probands presented with elevated serum …