A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B

OBJECTIVE AND METHODS Dysferlin encoded by DYSF deficiency leads to two main phenotypes, limb girdle muscular dystrophy (LGMD) 2B and Miyoshi myopathy. To reveal in detail the mutational and clinical features of LGMD2B in Japan, we observed 40 Japanese patients in 36 families with LGMD2B in whom dysferlin mutations were confirmed. RESULTS AND CONCLUSIONS Three mutations (c.1566C>G, c.2997G>T ...

Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G

TCAP encoded telethonin is a 19 kDa protein, which plays an important role in anchoring titin in Z disc of the sarcomere, and is known to cause LGMD2G, a rare muscle disorder characterised by proximal and distal lower limb weakness, calf hypertrophy and loss of ambulation. A total of 300 individuals with ARLGMD were recruited for this study. Among these we identified 8 clinically well character...

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy