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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Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Lippincott Williams & Wilkins 2012
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Articles
Linkit: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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