Article
Clinical and magnetic resonance imaging findings in patients with Leigh syndrome and SURF1 mutations.
Brain & development - 1 Oct 2014
Sonam Kothari, Khan Nahid Akthar, Bindu Parayil Sankaran, Taly Arun B, Gayathri N, Bharath M M Srinivas, Govindaraju C, Arvinda H R, Nagappa Madhu, Sinha Sanjib, Thangaraj K
Abstract excerpt
BACKGROUND: Mutation in the SURF1 is one of the most common nuclear mutations associated with Leigh syndrome and cytochrome c oxidase deficiency. This study aims to describe the phenotypic and imaging features in four patients with Leigh syndrome and novel SURF1 mutation. METHODS: The study included four patients with Leigh syndrome and SURF1 mutations identified from a cohort of 25 children with Leigh syndrome...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.