Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD.

ABSTRACT:

Background

Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscle dystrophy that resembles Duchenne muscular dystrophy (DMD). Although DMD is known to affect one in every 3500 males regardless of race, a widespread founder mutation causing LGMD2C has been described in North Africa. However, the incidence of LGMD2C in Japanese has been unknown because the genetic background remains uncharacterized in many patients clinically diagnosed with DMD.

Methods

We enrolled 324 patients referred to the Kobe University Hospital with suspected DMD. Mutations in the dystrophin or the SGCG genes were analyzed using not only genomic DNA but also cDNA.

Results

In 322 of the 324 patients, responsible mutations in the dystrophin were successfully revealed, conf

SUBMITTER: Okizuka Y 

PROVIDER: S-EPMC2861025 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature