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Article

Facioscapulohumeral Muscular Dystrophy

1 Dec 2016

Abstract excerpt

PURPOSE OF REVIEW: This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD). RECENT FINDINGS: FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4. Approximately 95% of patients have FSHD type 1 (FSHD1), in which loss of DNA repetitive...

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Identifiers

PMID: 27922500
DOI: 10.1212/con.0000000000000399

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