Article
[From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy].
Nederlands tijdschrift voor geneeskunde - 20 May 2006
Schreuder A H C M L, de Die-Smulders C E M, Herbergs J, Koehler P J
Abstract excerpt
Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and dysphagia, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the 'poly adenylate binding...
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