Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.

ABSTRACT:

Background

Duchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopathies show a complex mutation spectrum. The importance of mutation databases, with clinical phenotypes and protein studies of patients, is increasingly recognized as a reference for genetic diagnosis and for the development of gene therapy.

Methods

We used the data from the Japanese Registry of Muscular Dystrophy (Remudy) compiled during from July 2009 to March 2017, and reviewed 1497 patients with dystrophinopathies.

Results

The spectrum of identified mutations contained exon deletions (61%), exon duplications (13%), nonsense mutations (13%), small

SUBMITTER: Okubo M 

PROVIDER: S-EPMC5580216 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature