Electrophysiological findings in a Danish family with Machado-Joseph disease.

doi:10.1002/(SICI)1097-4598(199606)19:6<743::AID-MUS9>3.0.CO;2-A

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Article

Electrophysiological findings in a Danish family with Machado-Joseph disease.

Muscle & nerve - 1 Jun 1996

Colding-Jørgensen E, Sørensen S A, Hasholt L, Lauritzen M

Abstract excerpt

Machado-Joseph disease (MJD) is a neurodegenerative disorder with autosomal dominant inheritance, We have carried out electrophysiological studies in 8 individuals belonging to a Danish family with several affected members. Five had an expanded trinucleotide (CAG) repeat sequence in the MJD1 gene...

Topics

Adult
Aged
Ataxin-3
Brain Stem
Chromosome Mapping
Chromosomes, Human, Pair 14
Denmark
Electromyography
Electrophysiology
Evoked Potentials, Auditory
Evoked Potentials, Somatosensory
Evoked Potentials, Visual

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Humans

Machado-Joseph Disease

Male

Middle Aged

Motor Neurons

Source

Open in PubMed

Identifiers

PMID: 8609925
DOI: 10.1002/(SICI)1097-4598(199606)19:6<743::AID-MUS9>3.0.CO;2-A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8609925-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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