Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.

ABSTRACT:

Objective

Ullrich congenital muscular dystrophy (UCMD) corresponds to the severe end of the clinical spectrum of neuromuscular disorders caused by mutations in the genes encoding collagen VI (COL VI). We studied four unrelated families with six affected children that had typical UCMD with dominant and recessive inheritance.

Materials & methods

Four unrelated Iranian families with six affected children with typical UCMD were analyzed for COLVI secretion in skin fibroblast culture and the secretion of COLVI in skin fibroblast culture using quantitative RT-PCR (Q-RT-PCR), and mutation identification was performed by sequencing of complementary DNA.

Results

COL VI secretion was altered in all studied fibroblast cultures. Two affected sibs carried a homozygous nonsense mut

SUBMITTER: Bozorgmehr B 

PROVIDER: S-EPMC3943075 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature