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Article

[Genetic investigations in facioscapulohumeral muscular dystrophy: a preliminary report].

Neurologia i neurochirurgia polska - 1 Jan 2000

Dorobek Małgorzata, Kabzińska Dagmara, Ryniewicz Barbara, Fidziańska-Dolot Anna, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a primary muscle disorder with autosomal dominant inheritance. FSHD was mapped to chromosome 4 locus q35, but the gene is not yet known. It is characterised by progressive, often asymmetric, selective muscular weakness and great clinical variability. The aim of the study was to analyze 62 FSHD cases from 44 Polish families in which the diagnosis was confirmed by...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Dystrophy, Facioscapulohumeral

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Source

Identifiers

PMID: 15307599

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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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