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Article

No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.

Human molecular genetics - 1 May 1993

Passos-Bueno M R, Wijmenga C, Takata R E, Marie S K, Vainzof M, Pavanello R C, Hewitt J E, Bakker E, Carvalho A, Akiyama J

Abstract excerpt

The gene responsible for facioscapulohumeral muscular dystrophy (FSHD), an autosomal dominant neuromuscular condition, has been mapped to chromosome 4. Until recently, the two closest available markers were D4S139 and D4S163 but a new marker (p13E-11) which recognizes de novo rearrangements in isolated cases of FSHD characterized by shorter EcoRI fragments has been now identified. Linkage analysis in FSHD...

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Identifiers

PMID: 8518794
DOI: 10.1093/hmg/2.5.557

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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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No evidence of genetic heterogeneity in Brazilian facioscapulohumeral muscular dystrophy families (FSHD) with 4q markers.PMID 8518794Read ↗

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.Semantic proximity Read ↗

Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1Semantic proximity Read ↗

Detection of the mutation in facioscapulohumeral muscular dystrophy patients.Semantic proximity Read ↗

The FSHD-linked locus D4F104S1 (p13E-11) ON 4q35 has a homologue on 10qterSemantic proximity Read ↗

Facioscapulohumeral muscular dystrophy with EcoRI/BlnI fragment size of more than 32 kb.Semantic proximity Read ↗

Evaluation of the facioscapulohumeral muscular dystrophy (FSHD1) phenotype in correlation to the concurrence of 4q35 and 10q26 fragments.Semantic proximity Read ↗

Molecular analysis of 4q35 rearrangements in fascioscapulohumeral muscular dystrophy (FSHD): application to family studies for a correct genetic advice and a reliable prenatal diagnosis of the disease.Semantic proximity Read ↗

[Facioscapulohumeral muscular dystrophy (FSHD)].Semantic proximity Read ↗

Mutation spectrum and phenotypic manifestation in FSHD Greek patients.Semantic proximity Read ↗

Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.Semantic proximity Read ↗

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.Semantic proximity Read ↗

The facioscapulohumeral muscular dystrophy (FSHD1) gene affects males more severely and more frequently than females.Semantic proximity Read ↗

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