Article
Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation.
Archives of neurology - 1 Feb 2002
Carelli Valerio, Baracca Alessandra, Barogi Silvia, Pallotti Francesco, Valentino Maria Lucia, Montagna Pasquale, Zeviani Massimo, Pini Antonella, Lenaz Giorgio, Baruzzi Agostino, Solaini Giancarlo
Abstract excerpt
OBJECTIVE: To investigate the correlation between biochemical and clinical phenotype in 6 patients from 3 unrelated families with different mutation loads (heteroplasmy) of the T8993G mitochondrial DNA mutation associated with neuropathy, ataxia, and retinitis pigmentosa-Leigh syndrome. METHODS: We studied adenosine triphosphate (ATP) synthase activity (synthesis and hydrolysis) in platelet-derived...
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