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  • Title: Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.
    Author: Luo SS, Xi JY, Zhu WH, Zhao CB, Lu JH, Lin J, Wang Y, Lu J, Qiao K.
    Journal: Muscle Nerve; 2012 Nov; 46(5):723-9. PubMed ID: 22926650.
    Abstract:
    INTRODUCTION: 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.
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