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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Main Authors: Pitceathly, Robert D.S., Murphy, Sinéad M., Cottenie, Ellen, Chalasani, Annapurna, Sweeney, Mary G., Woodward, Cathy, Mudanohwo, Ese E., Hargreaves, Iain, Heales, Simon, Land, John, Holton, Janice L., Houlden, Henry, Blake, Julian, Champion, Michael, Flinter, Frances, Robb, Stephanie A., Page, Rupert, Rose, Michael, Palace, Jacqueline, Crowe, Carol, Longman, Cheryl, Lunn, Michael P., Rahman, Shamima, Reilly, Mary M., Hanna, Michael G.
Formato: Artigo
Idioma:Inglês
Publicado: Lippincott Williams & Wilkins 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3525307/
https://ncbi.nlm.nih.gov/pubmed/22933740
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e3182698d8d
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