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Article

Facioscapulohumeral muscular dystrophy type 2: an update on the clinical, genetic, and molecular findings.

Neuromuscular disorders : NMD - 1 Nov 2021

Jia Fangzhi Frank, Drew Alexander P, Nicholson Garth Alexander, Corbett Alastair, Kumar Kishore Raj

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disease of the skeletal muscle with a characteristic pattern of weakness. Facioscapulohumeral muscular dystrophy type 2 (FSHD2) accounts for approximately 5% of all cases of FSHD and describes patients without a D4Z4 repeat contraction on chromosome 4. Phenotypically FSHD2 shows virtually no difference from FSHD1 and both forms of FSHD arise via a...

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Share to Chromosomal Proteins, Non-Histone
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Fibers, Skeletal

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Share to Muscular Dystrophy, Facioscapulohumeral

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Identifiers

PMID: 34711481
DOI: 10.1016/j.nmd.2021.09.010

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