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Article

Genetics of facioscapulohumeral muscular dystrophy: new mutations in sporadic cases.

Neurology - 1 Nov 1993

Griggs R C, Tawil R, Storvick D, Mendell J R, Altherr M R

Abstract excerpt

A gene for facioscapulohumeral muscular dystrophy (FSHD) has been linked to chromosome 4q35 in families with the disease. We have used recently characterized p13E-11/D4S809 probes that map near or within the FSHD gene to investigate eight sporadic cases of FSHD whose parents showed no signs of disease. Probe p13E-11/D4S809 detected novel DNA fragments in seven of the eight sporadic FSHD individuals and not in the...

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Identifiers

PMID: 8232958
DOI: 10.1212/wnl.43.11.2369

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

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