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Article

A patient with 2 different repeat expansion mutations.

Archives of neurology - 1 Aug 2000

Nokelainen P, Heiskala H, Lehesjoki A E, Kaski M

Abstract excerpt

BACKGROUND: Many inherited progressive encephalopathies have a poor outcome, and some are caused by repeat expansion mutations. How would the presence of 2 different expansion mutations affect the phenotype? OBJECTIVE: To describe a patient who has 2 distinct, rare genetic disorders: myotonic dystrophy (DM, OMIM 160900) and progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1, OMIM 254800). Both...

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Identifiers

PMID: 10927802
DOI: 10.1001/archneur.57.8.1199

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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