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Article

A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.

BMC medical genomics - 1 Feb 2024

Sun Ming-Xia, Jing Miao, Hua Ying, Wang Jian-Biao, Wang Sheng-Quan, Chen Li-Lan, Ju Liang, Liu Yan-Shan

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a female proband carrying a novel mutation in the DMD gene with non-random X-chromosome inactivation in a large pedigree with pseudohypertrophic muscular dystrophy. METHODS: Clinical information of the female proband, her monozygotic twin sister, and other family members were collected. Potential pathogenic variants were detected with...

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Identifiers

PMID: 38303044
DOI: 10.1186/s12920-024-01794-x
PMCID: PMC10832127

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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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