Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.

ABSTRACT:

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

PCR-sequencing analysis; sequence capture and targeted resequencing.

Results

Mutations of the CAPN3 gene are the most common cause of LGMD2, and mutations in this gene were identified in 71 patients in a set of 218 Czech probands with a suspicion of LGMD2. Totally, we detected 37 different mutations of which 12 have been described only in Czech LGMD2A patients. The mutation c.550d

SUBMITTER: Stehlikova K 

PROVIDER: S-EPMC4145250 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature