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Article

Genotype and phenotype analysis of 43 Iranian facioscapulohumeral muscular dystrophy patients; Evidence for anticipation.

Neuromuscular disorders : NMD - 1 Apr 2018

Alavi Afagh, Esmaeili Sara, Nafissi Shahriar, Kahrizi Kimia, Najmabadi Hossein

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary myopathy (prevalence 1/8300-1/20,000). It is typically characterized by progressive weakness of facial, scapular and humeral muscles. Pelvic, abdominal and lower limbs muscles may eventually be affected. FSHD is classified into two subgroups, FSHD1 and FSHD2. FSHD1 is due to a reduction in the copy number of D4Z4 macrosatellites on...

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Share to Chromosomal Proteins, Non-Histone
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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: 29402602
DOI: 10.1016/j.nmd.2018.01.001

Genes

SMCHD1

Provenance

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