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Electrophysiologic findings in Fabry's disease with a short PR interval

✍ Scribed by William T. Pochis; James T. Litzow; Brian G. King; Dermot Kenny


Book ID
113119426
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
358 KB
Volume
74
Category
Article
ISSN
0002-9149

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Machado-Joseph disease (MJD) is a neurodegenerative disorder with auto-soma1 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 MJDl gene o