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[Mutation analysis and prenatal diagnosis of sporadic DMD/BMD families].

Zhonghua yi xue za zhi - 7 Jul 2009

Zhu Hai-Yan, Li Jie, Yang Ying, Wu Xing, Zhu Xiang-Yu, Zhu Rui-Fang, Zhang Ying, Duan Hong-Lei, Hu Ya-Li

Abstract excerpt

OBJECTIVE: To analyze the pathogenic mutation of sporadic patients in Duchenne/ Becker muscular dystrophy (DMD/BMD) families and to perform prenatal diagnosis, identify the female carriers and evaluate the ratio of de novo mutation in these pedigrees. METHODS: A total of 30 sporadic DMD/BMD families were included. Traditional multiplex PCR was used to detect the 18 exons in the deletion hot area of DMD gene. MLPA...

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Source

Identifiers

PMID: 19862979

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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