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 on chromosome 14 indicating MJD, while 3 unaffected individuals had normal repeat lengths. Three individuals with...
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