Article
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.
American journal of human genetics - 5 May 2016
Metodiev Metodi D, Thompson Kyle, Alston Charlotte L, Morris Andrew A M, He Langping, Assouline Zarah, Rio Marlène, Bahi-Buisson Nadia, Pyle Angela, Griffin Helen, Siira Stefan, Filipovska Aleksandra, Munnich Arnold, Chinnery Patrick F, McFarland Robert, Rötig Agnès, Taylor Robert W
Abstract excerpt
Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene expression. Recently, mutations in several genes encoding factors involved in mt-tRNA processing have been identified to cause mitochondrial disease. Using whole-exome sequencing, we identified mutations in TRMT10C (encoding the mitochondrial RNase P protein...
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