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[Family genetic analysis of paternal Dystrophin gene mutations in a case of female Duchenne muscular dystrophy].

Zhonghua yi xue za zhi - 28 Dec 2021

Mao Y Y, Chen Q, Zhang X, Xu K M, Gao Z J, Zhang P P

Abstract excerpt

A pedigree genetic analysis of a female Duchenne muscular dystrophy (DMD) inherited from paternal chimerism was conducted to explore the genetic diagnosis strategy. No large deletions/duplications was found in the DMD gene of the proband. Next-generation sequencing (NGS) results showed that the proband had a heterozygous mutation in the DMD gene c.4707C>A (p.C1569X). This locus has not been reported in the...

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Source

Identifiers

PMID: 34955001
DOI: 10.3760/cma.j.cn112137-20210521-01178

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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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