Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.
Authors
Pitceathly, Robert D SMurphy, 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
Affiliation
From the MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, UK.Issue Date
2012-09-11
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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 2012, 79 (11):1145-54 NeurologyPublisher
NeurologyJournal
NeurologyDOI
10.1212/WNL.0b013e3182698d8dPubMed ID
22933740Abstract
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 essential requirement of ATP for axonal function. We identified the mtDNA mutation m.9185T>C in MT-ATP6, encoding the ATP6 subunit of the mitochondrial ATP synthase (OXPHOS complex V), at homoplasmic levels in a family with mitochondrial disease in whom a severe motor axonal neuropathy was a striking feature. This led us to hypothesize that mutations in the 2 mtDNA complex V subunit encoding genes, MT-ATP6 and MT-ATP8, might be an unrecognized cause of isolated axonal CMT and distal hereditary motor neuropathy (dHMN).Item Type
ArticleLanguage
enISSN
1526-632Xae974a485f413a2113503eed53cd6c53
10.1212/WNL.0b013e3182698d8d
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