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Article

Oculopharyngeal muscular dystrophy in a northern German family linked to chromosome 14q, and presenting carnitine deficiency.

Neuromuscular disorders : NMD - 1 Oct 1997

Porschke H, Kress W, Reichmann H, Goebel H H, Grimm T

Abstract excerpt

We report the evaluation of oculopharyngeal muscular dystrophy (OPMD) in a large northern German family, which can be traced back six generations and is unrelated to French-Canadian families. The symptoms in this family start at about 50 years of age and include dysphagia, bilateral ptosis, and in some cases a slowly progressive atrophy and weakness of other extraocular, facial or limb girdle muscles. The muscle...

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PMID: 9392018
DOI: 10.1016/s0960-8966(97)00084-9

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