Ontology highlight
ABSTRACT:
SUBMITTER: Powell CA
PROVIDER: S-EPMC4573257 | biostudies-literature | 2015 Aug
REPOSITORIES: biostudies-literature
Powell Christopher A CA Kopajtich Robert R D'Souza Aaron R AR Rorbach Joanna J Kremer Laura S LS Husain Ralf A RA Dallabona Cristina C Donnini Claudia C Alston Charlotte L CL Griffin Helen H Pyle Angela A Chinnery Patrick F PF Strom Tim M TM Meitinger Thomas T Rodenburg Richard J RJ Schottmann Gudrun G Schuelke Markus M Romain Nadine N Haller Ronald G RG Ferrero Ileana I Haack Tobias B TB Taylor Robert W RW Prokisch Holger H Minczuk Michal M
American journal of human genetics 20150716 2
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression of mtDNA-encoded genes, caused by mutations in either the mitochondrial or nuclear genome, represents a rapidly growing group of human disorders. By whole-exome sequencing, we identified two unrelated individuals carrying compound heterozygous variants in TRMT5 (tRNA methyltransferase 5). TRMT5 ...[more]