Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic

BACKGROUND Autosomal recessive limb-girdle muscular dystrophies (LGMD2) include a number of disorders with heterogeneous etiology that cause predominantly weakness and wasting of the shoulder and pelvic girdle muscles. In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes. METHODS ...

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy

Limb-girdle Muscular Dystrophy

The 10 autosomal recessive limb-girdle muscular dystrophies.

Fifteen forms of limb-girdle muscular dystrophies (5 autosomal dominant and 10 autosomal recessive) have already been found. The 10 genes responsible for the autosomal recessive forms, which account for more than 90% of the cases, had their product identified. This review will focus on the most recent data on autosomal recessive-limb-girdle muscular dystrophy and on our own experience of more t...