Ontology highlight
ABSTRACT:
SUBMITTER: Pitceathly RD
PROVIDER: S-EPMC3525307 | biostudies-literature | 2012 Sep
REPOSITORIES: biostudies-literature
Pitceathly Robert D S RD Murphy Sinéad M SM Cottenie Ellen E Chalasani Annapurna A Sweeney Mary G MG Woodward Cathy C Mudanohwo Ese E EE Hargreaves Iain I Heales Simon S Land John J Holton Janice L JL Houlden Henry H Blake Julian J Champion Michael M Flinter Frances F Robb Stephanie A SA Page Rupert R Rose Michael M Palace Jacqueline J Crowe Carol C Longman Cheryl C Lunn Michael P MP Rahman Shamima S Reilly Mary M MM Hanna Michael G MG
Neurology 20120829 11
<h4>Objective</h4>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 homoplasm ...[more]