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Article

Milder phenotype in facioscapulohumeral dystrophy with 7-10 residual D4Z4 repeats.

Neurology - 15 Dec 2015

Statland Jeffrey M, Donlin-Smith Colleen M, Tapscott Stephen J, Lemmers Richard J L F, van der Maarel Silvère M, Tawil Rabi

Abstract excerpt

OBJECTIVE: To examine the relationship of clinical and genetic features of patients with facioscapulohumeral muscular dystrophy (FSHD) with 7-10 residual D4Z4 repeats in a large genetically defined FSHD1 cohort. METHODS: We performed a prospective cross-sectional observational study of 74 clinically affected patients with FSHD1. Measures of clinical severity were compared between patients with 1-6 D4Z4 repeats...

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Source

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Identifiers

PMID: 26561289
DOI: 10.1212/WNL.0000000000002217
PMCID: PMC4691686

Provenance

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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