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Article

[Clinical and molecular diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) in 2012].

Revue neurologique - 1 Jan 2000

Salort-Campana E, Nguyen K, Lévy N, Pouget J, Attarian S

Abstract excerpt

INTRODUCTION: Diagnosis of facioscapulohumeral dystrophy type 1 (FSHD1) is supported by a suggestive clinical presentation and associated with a heterozygous contraction of the D4Z4 repeat array on chromosome 4q35. STATE OF THE ART: The FSHD1 phenotype has a widely variable course with great inter- and intrafamilial heterogeneity. Three clinical forms can be distinguished: the classical phenotype associated with...

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Identifiers

PMID: 24011979
DOI: 10.1016/j.neurol.2013.07.001

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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