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Article

Homozygous inheritance of the Machado-Joseph disease gene.

Annals of neurology - 1 Sept 1994

Lang A E, Rogaeva E A, Tsuda T, Hutterer J, St George-Hyslop P

Abstract excerpt

We report a patient presenting at age 16 years with postural instability and falls who developed severe generalized dystonia by the age of 20 years. He was the product of a consanguineous marriage. Maternal grandfather and paternal grandmother (brother and sister) living in the Azores were both affected by Machado-Joseph disease (MJD) beginning late in life. To date neither of the patient's parents are clinically...

Topics

Adult
Aged
Chromosome Mapping
Female
Genes, Dominant
Genetic Linkage
Genotype
Homozygote
Humans
Machado-Joseph Disease
Male
Middle Aged

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Identifiers

PMID: 8080254
DOI: 10.1002/ana.410360318

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8080254-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Click a neighbor to travelStep 1 · 8 closest

Homozygous inheritance of the Machado-Joseph disease gene.PMID 8080254Read ↗

Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation.Semantic proximity Read ↗

Evidence for inter-generational instability in the CAG repeat in the MJD1 gene and for conserved haplotypes at flanking markers amongst Japanese and Caucasian subjects with Machado-Joseph disease.Semantic proximity Read ↗

Machado-Joseph disease in three Scandinavian families.Semantic proximity Read ↗

Natural selection at the MJD locus: phenotypic diversity, survival and fertility among Machado-Joseph Disease patients from the Azores.Semantic proximity Read ↗

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.Semantic proximity Read ↗

Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.Semantic proximity Read ↗

The genomic structure and expression of MJD, the Machado-Joseph disease geneSemantic proximity Read ↗

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severitySemantic proximity Read ↗

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