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Article

Integrating clinical and genetic observations in facioscapulohumeral muscular dystrophy.

Current opinion in neurology - 1 Oct 2016

Mul Karlien, van den Boogaard Marlinde L, van der Maarel Silvère M, van Engelen Baziel G M

Abstract excerpt

PURPOSE OF REVIEW: This review gives an overview of the currently known key clinical and (epi)genetic aspects of facioscapulohumeral muscular dystrophy (FSHD) and provides perspectives to facilitate future research. RECENT FINDINGS: Clinically, imaging studies have contributed to a detailed characterization of the FSHD phenotype, and a model is proposed with five stages of disease progression. A number of...

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Source

Identifiers

PMID: 27389814
DOI: 10.1097/WCO.0000000000000360

Genes

DUX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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