Article
Unusual triplet expansion associated with neurogenic changes in a family with oculopharyngeal muscular dystrophy.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Mar 2001
Schober R, Kress W, Grahmann F, Kellermann S, Baum P, Günzel S, Wagner A
Abstract excerpt
The occasional observation of neurogenic features in oculopharyngeal muscular dystrophy (OPMD) is unclear both in nosological and in etiological respects. Studies are reported here of a family with autosomal-dominant OPMD involving seven members over three generations. In three of them muscle biopsies were performed. Two of the patients (a 45-year-old sister and a 57-year-old brother of the third generation) were...
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