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Article

Detection of the mutation in facioscapulohumeral muscular dystrophy patients.

Acta paediatrica Japonica : Overseas edition - 1 Feb 1997

Ohya K, Tachi N, Kozuka N, Kon S, Kikuchi K, Chiba S

Abstract excerpt

The gene responsible for facioscapulohumeral muscular dystrophy (FSHD) was mapped to chromosome 4q35 by linkage analyses. Recently, the probe p13E-11 derived from the cosmid clone 13E, which has been mapped to 4qter, detected a polymorphic EcoRI fragment, usually greater than 28 kb in normal individuals. In sporadic and familial FSHD patients, a specific shorter fragment, usually smaller than 28 kb, was found to...

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Identifiers

PMID: 9124063
DOI: 10.1111/j.1442-200x.1997.tb03564.x

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

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Detection of the mutation in facioscapulohumeral muscular dystrophy patients.PMID 9124063Read ↗

Direct detection of 4q35 rearrangements implicated in facioscapulohumeral muscular dystrophy (FSHD).Semantic proximity Read ↗

[Genetic analysis of facioscapulohumeral muscular dystrophy (FSHD)].Semantic proximity Read ↗

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

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.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 ↗

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

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

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype.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 ↗

Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD).Semantic proximity Read ↗

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

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

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