Article
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2020
Riley Lisa G, Cowley Mark J, Gayevskiy Velimir, Minoche Andre E, Puttick Clare, Thorburn David R, Rius Rocio, Compton Alison G, Menezes Minal J, Bhattacharya Kaustuv, Coman David, Ellaway Carolyn, Alexander Ian E, Adams Louisa, Kava Maina, Robinson Jacqui, Sue Carolyn M, Balasubramaniam Shanti, Christodoulou John
Abstract excerpt
PURPOSE: The utility of genome sequencing (GS) in the diagnosis of suspected pediatric mitochondrial disease (MD) was investigated. METHODS: An Australian cohort of 40 pediatric patients with clinical features suggestive of MD were classified using the modified Nijmegen mitochondrial disease severity scoring into definite (17), probable (17), and possible (6) MD groups. Trio GS was performed using DNA extracted...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.