An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.

doi:10.1006/geno.1994.1220

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Article

An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.

Genomics - 1 May 1994

Mérette C, Brzustowicz L M, Daniels R J, Davies K E, Gilliam T C, Melki J, Munnich A, Pericak-Vance M A, Siddique T, Voosen B

Abstract excerpt

We performed linkage analysis of 161 families with spinal muscular atrophy (SMA) in which affected individuals suffer from the intermediate or mild form of the disease (Types II or III). Markers for six loci encompassing the chromosome 5q11.2-q13.3 region were typed. The best map location for the...

Topics

Alleles
Chromosome Mapping
Chromosomes, Human, Pair 5
Female
Genotype
Haplotypes
Humans
Linkage Disequilibrium
Lod Score
Male
Muscular Atrophy, Spinal
Pedigree
Polymorphism, Genetic

Source

Open in PubMed

Identifiers

PMID: 8088801
DOI: 10.1006/geno.1994.1220

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8088801-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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