Article
Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene.
Indian journal of pediatrics - 1 Feb 2018
Vinu N, Puri Ratna D, Anand Kanav, Verma Ishwar C
Abstract excerpt
BACKGROUND: Mitochondrial disorders have a wide variability in the phenotype. A 10-mo-old girl presented with a severe phenotype of multisystem involvement due to an uncommon mitochondrial disease. Mutations in the RMND1 gene of nuclear DNA were identified on next generation sequencing. This mutation results in combined oxidative phosphorylation deficiency -11 (OMIM #614922) of the respiratory chain complex. So...
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