Article
Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency.
Biochimica et biophysica acta - 1 Aug 2013
Serre Valérie, Rozanska Agata, Beinat Marine, Chretien Dominique, Boddaert Nathalie, Munnich Arnold, Rötig Agnès, Chrzanowska-Lightowlers Zofia M
Abstract excerpt
Multiple respiratory chain deficiencies represent a common cause of mitochondrial diseases and are associated with a wide range of clinical symptoms. We report a subject, born to consanguineous parents, with growth retardation and neurological deterioration. Multiple respiratory chain deficiency was found in muscle and fibroblasts of the subject as well as abnormal assembly of complexes I and IV. A microsatellite...
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