Comprehensive genetic characteristics of dystrophinopathies in China

Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD). These mutations form a complex spectrum. A national registration network is ...

Source: Orphanet Journal of Rare Diseases - July 4, 2018 Category: Internal Medicine Authors: Peipei Ma, Shu Zhang, Hao Zhang, Siying Fang, Yuru Dong, Yan Zhang, Weiwei Hao, Shiwen Wu and Yuying Zhao Tags: Research Source Type: research