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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 i...

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Identifiers

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

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9392018-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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