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Article

[Clinical phenotypes and genetic features of families with Duchenne muscular dystrophy].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Aug 2020

Yang Li, Xu Xiao-Yan, Zhu Jing, Tang Jiu-Lai, Wu De

Abstract excerpt

OBJECTIVE: To study the phenotypes and genetic features of families with Duchenne muscular dystrophy (DMD). METHODS: Seven children from six families with DMD diagnosed by gene testing were enrolled. The clinical and genetic features of the families were analyzed. RESULTS: There were two new mutations and four maternal inheritance mutations in the six families. The proband of family 1 had one point de novo...

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Identifiers

PMID: 32800034
PMCID: PMC7441519

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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