A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy.

Roos, Sara

A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. [electronic resource] - European journal of human genetics : EJHG May 2013 - 571-3 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/ejhg.2012.153 doi


Adolescent
Anticodon--genetics
Base Pairing
Base Sequence
Cell Respiration--physiology
Cytochrome-c Oxidase Deficiency--genetics
Histological Techniques
Humans
Male
Mitochondrial Encephalomyopathies--genetics
Molecular Sequence Data
Muscle, Skeletal--pathology
Mutation--genetics
Phenotype
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
RNA, Transfer, Arg--genetics
Sequence Analysis, DNA
Sweden