New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. [electronic resource]
- Neuromuscular disorders : NMD May 2005
- 364-71 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0960-8966
10.1016/j.nmd.2005.01.006 doi
Adolescent Adult DNA Mutational Analysis--methods DNA, Mitochondrial--genetics Electron Transport Complex IV--metabolism Electrophoresis--methods Female Humans Male Microscopy, Electron, Transmission--methods Mitochondria, Muscle--pathology Mitochondrial Encephalomyopathies--enzymology Mitochondrial Proteins--metabolism Muscle, Skeletal--enzymology Mutation Nucleic Acid Conformation Phenotype RNA, Transfer, Ser--chemistry Serine--metabolism