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Article

Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity.

Journal of medical genetics - 1 Jan 2012

Sacconi Sabrina, Camaño Pilar, de Greef Jessica C, Lemmers Richard J L F, Salviati Leonardo, Boileau Pascal, Lopez de Munain Arregui Adolfo, van der Maarel Silvère M, Desnuelle Claude

Abstract excerpt

OBJECTIVE: To identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis and Southern blot analysis. DESIGN AND PATIENTS: The authors studied 16 patients...

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Source

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Identifiers

PMID: 21984748
DOI: 10.1136/jmedgenet-2011-100101
PMCID: PMC3560331

Genes

CAPN3
VCP
FHL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21984748-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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