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

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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...

Topics

Adolescent
Adult
Age of Onset
Brazil
Deoxyribonuclease EcoRI
Female
Humans
Male
Mosaicism
Muscular Dystrophies
Mutation
Pedigree
Polymorphism, Restriction Fragment Length

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Open in PubMed Open full text

Identifiers

PMID: 7825608
PMCID: PMC1801310

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7825608-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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