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Article

Clinical, muscle pathological, and genetic features of Japanese facioscapulohumeral muscular dystrophy 2 (FSHD2) patients with SMCHD1 mutations.

Neuromuscular disorders : NMD - 1 Jan 2000

Hamanaka Kohei, Goto Kanako, Arai Mami, Nagao Koji, Obuse Chikashi, Noguchi Satoru, Hayashi Yukiko K, Mitsuhashi Satomi, Nishino Ichizo

Abstract excerpt

Facioscapulohumeral muscular dystrophy 2 (FSHD2) is a genetic muscular disorder characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array, D4Z4. FSHD2 is caused by heterozygous mutations in the gene encoding structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1). Because there has been no study on FSHD2 in Asian populations, it is not known whether this...

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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: 27061275
DOI: 10.1016/j.nmd.2016.03.001

Genes

SMCHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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