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Article

Clinical and genetic features of somatic mosaicism in facioscapulohumeral dystrophy.

Journal of medical genetics - 1 Nov 2020

Qiu Liangliang, Ye Zhixian, Lin Lin, Wang Lili, Lin Xiaodan, He Junjie, Lin Feng, Xu Guorong, Cai Naiqing, Jin Ming, Chen Haizhu, Lin Minting, Wang Ning, Wang Zhiqiang

Abstract excerpt

PURPOSE: To analyse the clinical spectrum, genetic features, specific D4Z4 hypomethylation status and genotype-phenotype correlations for somatic mosaicism in facioscapulohumeral dystrophy (FSHD). METHODS: This was a prospective, hospital-based, case-control, observational study of 35 participants with FSHD with somatic mosaicism recruited over 10 years, with 17 penetrant patients and 18 non-penetrant mutation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Facioscapulohumeral

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Source

Identifiers

PMID: 32170003
DOI: 10.1136/jmedgenet-2019-106638

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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