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Article

Spinal and bulbar muscular atrophy: ligand-dependent pathogenesis and therapeutic perspectives.

Journal of molecular medicine (Berlin, Germany) - 1 May 2004

Katsuno Masahisa, Adachi Hiroaki, Tanaka Fumiaki, Sobue Gen

Abstract excerpt

Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by proximal muscle atrophy, weakness, contraction fasciculations, and bulbar involvement. SBMA exclusively affects males, while females are usually asymptomatic. The molecular basis of SBMA is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine (polyQ) tract in the first exon of the androgen...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15133611
DOI: 10.1007/s00109-004-0530-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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