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Article

Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report.

BMC medical genetics - 11 Nov 2020

Wang Yan, Chen Yuhan, Wang San Mei, Liu Xin, Gu Ya Nan, Feng Zhichun

Abstract excerpt

BACKGROUND: Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with mosaic DMD mutations and discussed the best method for prenatal diagnosis and genetic counseling of X-linked familial...

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Identifiers

PMID: 33176713
DOI: 10.1186/s12881-020-01157-0
PMCID: PMC7661169

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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