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Genetic variability and clinical spectrum of Chinese patients with limb‐girdle muscular dystrophy type 2A
Author(s) -
Luo SuShan,
Xi JianYing,
Zhu WenHua,
Zhao ChongBo,
Lu JiaHong,
Lin Jie,
Wang Yin,
Lu Jun,
Qiao Kai
Publication year - 2012
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.23381
Subject(s) - limb girdle muscular dystrophy , missense mutation , phenotype , genetics , genotype , dysferlin , muscular dystrophy , genotype phenotype distinction , mutation , biology , muscle biopsy , medicine , gene , pathology , biopsy
Previous studies of limb‐girdle muscular dystrophy type 2A (LGMD2A) patients in many countries have suggested a heterogeneous genetic and clinical spectrum, but the genotypes and phenotypes of Chinese LGMD2A patients remain unclear. Methods: We directly screened calpain‐3 (CAPN3) in 18 Chinese Han subjects who exhibited severely reduced or completely absent calpain‐3 expression, as determined by Western blot analysis. We subsequently analyzed genotype/phenotype correlations. Results: Seventeen patients (94.4%) were identified who had at least 1 causative mutation. All 18 mutations were distributed along the entire gene, and 11 of the mutations were novel, including 4 missense mutations, 5 deletions, and 2 splicing mutations. The phenotypes of these Chinese LGMD2A patients varied from severe LGMD to distal myopathy, and even asymptomatic hyper‐CK‐emia. Conclusions: No evidential correlation was found between the genotypes and phenotypes of the patients assessed in this study. Western blot analysis is still a useful diagnostic method when genetic analysis is unavailable. Muscle Nerve, 2012