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Article

[Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2010

Yuan Jun-hui, Hu Jing, Zhao Zhe, Shen Hong-rui, Li Na, Bing Qi

Abstract excerpt

OBJECTIVE: To investigate the clinical, pathological and genetic characteristics in a family with autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD). METHODS: Clinical data and skeletal muscle specimens were collected from two patients (the proband and her daughter) for pathological analysis. DNA samples of the proband and her family members (7 persons from 3 generations) were obtained for PCR...

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Source

Identifiers

PMID: 20376791
DOI: 10.3760/cma.j.issn.1003-9406.2010.02.004

Genes

LMNA

Provenance

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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