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Ann Neurol. 1995 Mar;37(3):400-3.

A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.

Author information

1
University Department of Clinical Neurology, Institute of Neurology, London, United Kingdom.

Abstract

A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activity on polarography. There was diffuse neuronal loss and gliosis throughout the brain on postmortem examination. The heteroplasmic mutation had a widespread distribution in autopsy tissues.

PMID:
7695240
DOI:
10.1002/ana.410370317
[Indexed for MEDLINE]

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