A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency
Abstract
We report a 16-month-old boy with psychomotor regression, muscle hypotonia, peripheral neuropathy, and lactic acidosis. Brain magnetic resonance imaging showed a bilateral abnormal signal in the substantia nigra and in the subthalamic nucleus, suggestive of Leigh disease. Histochemical analysis of skeletal muscle showed decreased cytochrome-c oxidase activity. Biochemical analysis of respiratory chain enzymes in muscle homogenate and in cultured...
Paper Details
Title
A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency
Published Date
Mar 1, 2002
Journal
Volume
17
Issue
3
Pages
233 - 236
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