Article
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.
BMC medical genetics - 16 Aug 2013
Craigen William J, Graham Brett H, Wong Lee-Jun, Scaglia Fernando, Lewis Richard Alan, Bonnen Penelope E
Abstract excerpt
BACKGROUND: The clinical features of mitochondrial disease are complex and highly variable, leading to challenges in establishing a specific diagnosis. Despite being one of the most commonly occurring inherited genetic diseases with an incidence of 1/5000, ~90% of these complex patients remain without a DNA-based diagnosis. We report our efforts to identify the pathogenetic cause for a patient with typical...
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