The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy.

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Article

The use of chromosome 5q markers for confirming the diagnosis of proximal spinal muscular atrophy.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Nov 1993

Whittle M R, Zatz M, Reinach F C

Abstract excerpt

1. Five Brazilian families referred to us with a probable diagnosis of chronic proximal spinal muscular atrophy (Kugelberg-Welander) were identified, and permanent (Epstein Barr virus transformed) cell lines were established from members of four of the families. 2. A genetic linkage study was car...

Topics

Adolescent
Adult
Alleles
Child
Chromosomes, Human, Pair 5
Family
Female
Genetic Linkage
Genetic Markers
Genotype
Humans
Male
Muscular Atrophy, Spinal
Pedigree
Polymorphism, Restriction Fragment Length

Source

Open in PubMed

Identifiers

PMID: 7907903

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7907903-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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