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Article

Relations between genotype and phenotype in German patients with the Machado-Joseph disease mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 1996

Schöls L, Amoiridis G, Epplen J T, Langkafel M, Przuntek H, Riess O

Abstract excerpt

OBJECTIVE: Machado-Joseph disease (MJD) is an autosomal dominant cerebellar ataxia with extensive phenotypic variability originally described in families of Portuguese ancestry. Recently, the mutation causing the disease has been identified as an expanded CAG trinucleotide repeat. In this study relations between genotype and phenotype were investigated. METHODS: A series of 180 German patients with degenerative...

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Identifiers

PMID: 8937340
DOI: 10.1136/jnnp.61.5.466
PMCID: PMC1074043

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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