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Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA

Lookup NU author(s): Emeritus Professor Doug Turnbull, Professor Robert Taylor


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A 67-year-old man presented with cognitive deficits, status epilepticus, left hemiparesis, and severe lactic acidosis. Respiratory chain enzyme analysis of skeletal muscle revealed a defect in complex I activity, associated with a heteroplasmic C11777A mutation in the mitochondrial ND4 gene. This case is remarkable not only because of the late onset of symptoms, but because this mutation affects the identical ND4 codon as the G11778A mutation that causes Leber hereditary optic neuropathy.

Publication metadata

Author(s): Deschauer M, Bamberg C, Claus D, Zierz S, Turnbull DM, Taylor RW

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2003

Volume: 60

Issue: 8

Pages: 1357-1359

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

PubMed id: 12707444