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Article

Early-onset facioscapulohumeral muscular dystrophy type 1 with some atypical features.

Journal of child neurology - 1 Apr 2015

Dorobek Małgorzata, van der Maarel Silvère M, Lemmers Richard J L F, Ryniewicz Barbara, Kabzińska Dagmara, Frants Rune R, Gawel Malgorzata, Walecki Jerzy, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Facioscapulohumeral muscular dystrophy cases with facial weakness before the age of 5 and signs of shoulder weakness by the age of 10 are defined as early onset. Contraction of the D4Z4 repeat on chromosome 4q35 is causally related to facioscapulohumeral muscular dystrophy type 1, and the residua...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24717985
DOI: 10.1177/0883073814528281

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24717985-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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