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

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    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
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    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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    Citation
    Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease. 2012, 79 (11):1145-54 Neurology
    Publisher
    Neurology
    Journal
    Neurology
    URI
    http://hdl.handle.net/10147/254544
    DOI
    10.1212/WNL.0b013e3182698d8d
    PubMed ID
    22933740
    Abstract
    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
    Article
    Language
    en
    ISSN
    1526-632X
    ae974a485f413a2113503eed53cd6c53
    10.1212/WNL.0b013e3182698d8d
    Scopus Count
    Collections
    Tallaght University Hospital

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