Article
Targeted exome sequencing of suspected mitochondrial disorders.
Neurology - 7 May 2013
Lieber Daniel S, Calvo Sarah E, Shanahan Kristy, Slate Nancy G, Liu Shangtao, Hershman Steven G, Gold Nina B, Chapman Brad A, Thorburn David R, Berry Gerard T, Schmahmann Jeremy D, Borowsky Mark L, Mueller David M, Sims Katherine B, Mootha Vamsi K
Abstract excerpt
OBJECTIVE: To evaluate the utility of targeted exome sequencing for the molecular diagnosis of mitochondrial disorders, which exhibit marked phenotypic and genetic heterogeneity. METHODS: We considered a diverse set of 102 patients with suspected mitochondrial disorders based on clinical, biochemical, and/or molecular findings, and whose disease ranged from mild to severe, with varying age at onset. We sequenced...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Child
- Child, Preschool
- DNA, Mitochondrial
- Exome
- Female
- Gene Targeting
- Genetic Predisposition to Disease