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Article

Case Studies on the Genetic and Clinical Diagnosis of Facioscapulohumeral Muscular Dystrophy.

Neurologic clinics - 1 Aug 2020

Hamel Johanna, Tawil Rabi

Abstract excerpt

Facioscapulohumeral muscular dystrophy is the second most common adult muscular dystrophy and is caused by DUX4 protein. DUX4 is expressed when the locus on chromosome 4q35 is hypomethylated. The clinical features can be nearly pathognomonic with facial weakness, scapular winging, and abdominal weakness with a positive Beevor sign. Diagnosis of late-onset or milder disease is often more challenging. Diseases...

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Identifiers

PMID: 32703466
DOI: 10.1016/j.ncl.2020.03.003

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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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