|
|||||
|
|
Two novel CAV3 gene mutations in Japanese families |
|
| Authors: | Sugie Kazuma Murayama Kumiko Noguchi Satoru Murakami Nobuyuki Mochizuki Mika Hayashi Yukiko K Nonaka Ikuya Nishino Ichizo |
| Affiliation: | aDepartment of Neuromuscular Research, National Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan bNational Center of Neurology and Psychiatry (NCNP), National Institute of Neuroscience, National Hospital for Mental, Nervous and Muscular Disorders, Kodaira, Tokyo, Japan cDepartment of Neurology, Nara Medical University School of Medicine, Kashihara, Nara, Japan dDepartment of Pediatrics, Dokkyo Medical University, Tochigi, Japan eDepartment of Neurology, Saitama Prefectual Medical Center of Children, Saitama, Japan |
| Abstract: | 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 CK level with calf muscle hypertrophy in their childhood but without apparent muscle weakness. However, their mothers showed mild limb-girdle weakness in addition to high CK level. Caveolin-3 was deficient and caveolae were lacking in muscles from both patients. Our data confirm that caveolin-3 deficiency causes LGMD-1C and expand the variability in CAV3 gene mutations. |
| Keywords: | CAV3 Caveolin-3 Caveolinopathy LGMD-1C |
| 本文献已被 ScienceDirect PubMed 等数据库收录！ | |