J Clin Neuromuscul Dis. 2008 Sep;10(1):22-3.

Coincident trinucleotide repeat expansions in a patient with myotonic dystrophy type 1 and spinocerebellar ataxia.

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Department of Neurology, The Ohio State University Medical Center, Columbus, OH 43210, USA. Stephen.Kolb@osumc.edu

Abstract

This is a case report of a patient with confirmed myotonic dystrophy type 1 and spinocerebellar ataxia type 6. The coexistence of two trinucleotide repeat expansions in this family illustrates the importance of continued and vigilant diagnostic inquiry when a patient with a confirmed genetic abnormality has an atypical presentation. The coincidence of two trinucleotide repeat expansions in this patient may suggest an underlying error in DNA metabolism.

PMID:: 18772697; [PubMed - indexed for MEDLINE]

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