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Article

Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.

Human molecular genetics - 1 Jul 1992

Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel J L

Abstract excerpt

Increased length of a protein-coding CAG repeat within the androgen receptor gene appears to be the only type of mutation responsible for spino-bulbal muscular atrophy (SBMA or Kennedy disease). We have analysed a large 4-generation SBMA family and found that the mutant allele was unstable upon transmission from parent to child, with a documented variation from 46 to 53 repeats and a tendency to increase in size...

Topics

Alleles
Base Sequence
Female
Humans
Male
Muscular Atrophy, Spinal
Oligodeoxyribonucleotides
Pedigree
Polymorphism, Genetic
Receptors, Androgen
Repetitive Sequences, Nucleic Acid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

X Chromosome

Source

Identifiers

PMID: 1303195
DOI: 10.1093/hmg/1.4.255

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1303195-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy.PMID 1303195Read ↗

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