Article
Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
Journal of neurology, neurosurgery, and psychiatry - 1 Jan 2010
Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker J L, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P
Abstract excerpt
BACKGROUND: m.14487T>C, a missense mutation (p.M63V) affecting the ND6 subunit of complex I of the mitochondrial respiratory chain, has been reported in isolated childhood cases with Leigh syndrome (LS) and progressive dystonia. Adult-onset phenotypes have not been reported. OBJECTIVES: To determine the clinical-neurological spectrum and associated mutation loads in an extended m.14487T>C family. METHODS: A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.