Article
The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine.
Journal of human genetics - 1 Aug 2013
Jaberi Elham, Chitsazian Fereshteh, Ali Shahidi Gholam, Rohani Mohammad, Sina Farzad, Safari Iman, Malakouti Nejad Maryam, Houshmand Masoud, Klotzle Brandy, Elahi Elahe
Abstract excerpt
SUCLA2 is one of several nuclear-encoded genes that can cause encephalomyopathy accompanied by mitochondrial DNA depletion. The disorder usually manifests in early childhood and leads to early death. The gene encodes one of the subunits of succinyl-CoA synthase, the enzyme that catalyzes the reversible conversion of substrates succinyl-CoA and ADP to products succinate and ATP in the tricarboxylic acid pathway....
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