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Early-Onset Infantile Facioscapulohumeral Muscular Dystrophy: A Timely Review

21 Oct 2020

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD)—the worldwide third most common inherited muscular dystrophy caused by the heterozygous contraction of a 3.3 kb tandem repeat (D4Z4) on a chromosome with a 4q35 haplotype—is a progressive genetic myopathy with variable onset of symptoms, distribution of muscle weakness, and clinical severity. While much is known about the clinical course of adult FSHD, data on the...

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PMID: 33096728
DOI: 10.3390/ijms21207783

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