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Article

High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.

American journal of human genetics - 1 Jan 1995

Zatz M, Marie S K, Passos-Bueno M R, Vainzof M, Campiotto S, Cerqueira A, Wijmenga C, Padberg G, Frants R

Abstract excerpt

A gene responsible for facioscapulohumeral muscular dystrophy (FSHD) has been localized at 4q35. Subsequently, it was found that probe p13E-11 detects a polymorphic EcoRI fragment, usually > 28 kb, in normal individuals, whereas in sporadic and familial FSHD cases, an EcoRI fragment, usually < 28 kb, was found. Although these findings have been amply confirmed, several aspects are as yet either controversial or...

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Identifiers

PMID: 7825608
PMCID: PMC1801310

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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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High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families.PMID 7825608Read ↗

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

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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 ↗

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