Article
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
American journal of human genetics - 5 Oct 2012
Janer Alexandre, Antonicka Hana, Lalonde Emilie, Nishimura Tamiko, Sasarman Florin, Brown Garry K, Brown Ruth M, Majewski Jacek, Shoubridge Eric A
Abstract excerpt
Mutations in the genes composing the mitochondrial translation apparatus are an important cause of a heterogeneous group of oxidative phosphorylation (OXPHOS) disorders. We studied the index case in a consanguineous family in which two children presented with severe encephalopathy, lactic acidosis, and intractable seizures leading to an early fatal outcome. Blue native polyacrylamide gel electrophoretic (BN-PAGE)...
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