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Article

Genotype-phenotype correlation in Becker muscular dystrophy in Chinese patients.

Journal of human genetics - 1 Oct 2018

Yuan Ruiyi, Yi Junfei, Xie Zhiying, Zheng Yimeng, Han Miao, Hou Yue, Wang Zhaoxia, Yuan Yun

Abstract excerpt

Large deletions and duplications are the most frequent causative mutations in Becker muscular dystrophy (BMD), but genetic profile varied greatly among reports. We performed a comprehensive molecular investigation in 95 Chinese BMD patients. All patients were divided into three subtypes: normal muscle strength (type 1) in 18 cases, quadriceps myopathy (type 2) in 20 cases, and limb-girdle weakness (type 3) in 57...

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Source

Identifiers

PMID: 29976999
DOI: 10.1038/s10038-018-0480-5

Genes

DMD

Provenance

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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