Article
COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.
JAMA neurology - 1 Dec 2013
Pitceathly Robert D S, Taanman Jan-Willem, Rahman Shamima, Meunier Brigitte, Sadowski Michael, Cirak Sebahattin, Hargreaves Iain, Land John M, Nanji Tina, Polke James M, Woodward Cathy E, Sweeney Mary G, Solanki Shyam, Foley A Reghan, Hurles Matthew E, Stalker Jim, Blake Julian, Holton Janice L, Phadke Rahul, Muntoni Francesco, Reilly Mary M, Hanna Michael G
Abstract excerpt
IMPORTANCE: Isolated cytochrome-c oxidase (COX) deficiency is one of the most frequent respiratory chain defects seen in human mitochondrial disease. Typically, patients present with severe neonatal multisystem disease and have an early fatal outcome. We describe an adult patient with isolated COX deficiency associated with a relatively mild clinical phenotype comprising myopathy; demyelinating neuropathy;...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.