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Article

Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).

American journal of human genetics - 1 Aug 1993

Gilbert J R, Stajich J M, Wall S, Carter S C, Qiu H, Vance J M, Stewart C S, Speer M C, Pufky J, Yamaoka L H

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive primary disease of muscle which is usually inherited as an autosomal dominant disorder. FSHD has been localized to the long arm of chromosome 4, specifically to the 4q3.5-qter region. Initially published linkage studies showed...

Topics

Chi-Square Distribution
Chromosome Mapping
Chromosomes, Human, Pair 4
Female
Genes, Dominant
Genetic Linkage
Genetic Variation
Humans
Lod Score
Middle Aged
Muscular Dystrophies
Pedigree

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Identifiers

PMID: 8328457
PMCID: PMC1682358

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8328457-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD).PMID 8328457Read ↗

Linkage of Wolfram syndrome to chromosome 4p16.1 and evidence for heterogeneity.Semantic proximity Read ↗

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Molecular diagnosis of facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

Phenotypic-genotypic correlation will assist genetic counseling in 4q35-facioscapulohumeral muscular dystrophy.Semantic proximity Read ↗

A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1Semantic proximity Read ↗

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De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.Semantic proximity Read ↗

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Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD)Semantic proximity Read ↗

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