Ontology highlight
ABSTRACT:
SUBMITTER: Lehmann D
PROVIDER: S-EPMC4317191 | biostudies-literature | 2015 Jan
REPOSITORIES: biostudies-literature
Lehmann Diana D Schubert Kathrin K Joshi Pushpa R PR Baty Karen K Blakely Emma L EL Zierz Stephan S Taylor Robert W RW Deschauer Marcus M
Neuromuscular disorders : NMD 20140928 1
Mitochondrial transfer RNA (mt-tRNA) mutations are the commonest sub-type of mitochondrial (mtDNA) mutations associated with human disease. We report a patient with multisytemic disease characterised by myopathy, spinal ataxia, sensorineural hearing loss, cataract and cognitive impairment in whom a novel m.7539C>T mt-tRNA(Asp) transition was identified. Muscle biopsy revealed extensive histopathological findings including cytochrome c oxidase (COX)-deficient fibres. Pyrosequencing confirmed mtDN ...[more]