article_metadata: Diana Lehmann Kathrin Schubert Pushpa R Joshi Karen Baty Emma L Blakely Stephan Zierz Robert W Taylor Marcus Deschauer
article_metadata: 10.1016/j.nmd.2014.09.008
article_metadata: Neuromuscul Disord
article_metadata: 2015 Jan;25(1):81-4.
article_metadata: mitochondria multisystemic disease trna(asp)
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25447692/
article_metadata: DNA, Mitochondrial / genetics Mitochondrial Diseases / diagnosis Mitochondrial Diseases / genetics Point Mutation RNA / genetics RNA, Transfer, Asp / genetics
article_metadata: 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
article_metadata: PMC4317191
article_metadata: 25447692
article_metadata: A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease
article_metadata: 2015