Diana Lehmann Kathrin Schubert Pushpa R Joshi Karen Baty Emma L Blakely Stephan Zierz Robert W Taylor Marcus Deschauer
10.1016/j.nmd.2014.09.008
Neuromuscul Disord
2015 Jan;25(1):81-4.
mitochondria multisystemic disease trna(asp)
CC BY
https://pubmed.ncbi.nlm.nih.gov/25447692/
DNA, Mitochondrial / genetics Mitochondrial Diseases / diagnosis Mitochondrial Diseases / genetics Point Mutation RNA / genetics RNA, Transfer, Asp / genetics
DNA, Mitochondrial / genetics Mitochondrial Diseases / diagnosis Mitochondrial Diseases / genetics Point Mutation RNA / genetics RNA, Transfer, Asp / genetics Case Reports Research Support, Non-U.S. Gov't Brain / pathology Electron Transport Complex IV / metabolism Female Humans Middle Aged Mitochondria / metabolism Muscle, Skeletal / enzymology Muscle, Skeletal / pathology RNA, Mitochondrial DNA, Mitochondrial RNA, Mitochondrial RNA, Transfer, Asp RNA Electron Transport Complex IV
PMC4317191
25447692
A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease
2015