Article
A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features.
Archives of neurology - 1 Mar 2009
Blakely Emma L, Trip S Anand, Swalwell Helen, He Langping, Wren Damian R, Rich Philip, Turnbull Douglass M, Omer Salah E, Taylor Robert W
Abstract excerpt
BACKGROUND: Pathogenic mutations of the human mitochondrial genome are associated with well-characterized, progressive neurological syndromes, with mutations in the transfer RNA genes being particularly prominent. OBJECTIVE: To describe a novel mitochondrial transfer RNA(Pro) gene mutation in a woman with a myoclonic epilepsy with ragged-red fibers-like disease. Design, Setting, and Patient Case report of a...
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