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Article

Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet journal of rare diseases - 4 Jul 2018

Ma Peipei, Zhang Shu, Zhang Hao, Fang Siying, Dong Yuru, Zhang Yan, Hao Weiwei, Wu Shiwen, Zhao Yuying

Abstract excerpt

BACKGROUND: 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 essential not only to provide more information about the prevalence and natural history of the disease, but also to collect genetic data for analyzing the mutational spectrum. This information...

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Source

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Identifiers

PMID: 29973226
DOI: 10.1186/s13023-018-0853-z
PMCID: PMC6032532

Genes

DMD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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