Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

OBJECTIVE: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations are not generally considered within the differential diagnosis of patients with uncomplicated inherited neuropathy, despite the esse...

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Bibliographic Details
Main Authors: Pitceathly, R, Murphy, S, Cottenie, E, Chalasani, A, Sweeney, MG, Woodward, C, Mudanohwo, E, Hargreaves, I, Heales, S, Land, J, Holton, J, Houlden, H, Blake, J, Champion, M, Flinter, F, Robb, SA, Page, R, Rose, M, Palace, J, Crowe, C, Longman, C, Lunn, M, Rahman, S, Reilly, M, Hanna, MG
Format: Journal article
Language:English
Published: 2012

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