A De novo Mutation in Dystrophin Causing Muscular Dystrophy in a Female Patient.

ABSTRACT:

Background

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive neuromuscular diseases resulting from dystrophin (DMD) gene mutations. It has been known that the carrier of DMD mutations may also have symptoms of the disease. While de novo mutation is quite common in BMD/DMD patients, it is rarely reported in the female carriers.

Methods

Two sporadic Chinese patients with progressive muscular dystrophy and their familial members were recruited. The targeted next-generation sequencing (NGS) and the multiplex ligation-dependent probe analysis (MLPA) were performed in the proband. Blood tests, electrocardiography, echocardiography, and electromyography were also evaluated.

Results

Two novel mutations of DMD gene were identified, c.

SUBMITTER: Yu H 

PROVIDER: S-EPMC5634074 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature