Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy.

ABSTRACT:

Background

Myostatin is a negative regulator of skeletal muscle growth. Truncating mutations in the myostatin gene have been reported to result in gross muscle hypertrophy. Duchenne muscular dystrophy (DMD), the most common lethal muscle wasting disease, is a result of an absence of muscle dystrophin. Although this disorder causes a rather uniform pattern of muscle wasting, afflicted patients display phenotypic variability. We hypothesized that genetic variation in myostatin is a modifier of the DMD phenotype.

Methods

We analyzed 102 Japanese DMD patients for mutations in the myostatin gene.

Results

Two polymorphisms that are commonly observed in Western countries, p.55A>T and p.153K>R, were not observed in these Japanese patients. An uncommon polymorphism of p.164E>K

SUBMITTER: Nishiyama A 

PROVIDER: S-EPMC1855920 | biostudies-literature | 2007 Apr

REPOSITORIES: biostudies-literature