User: Guest  Login
Document type:
journal article 
Author(s):
Lehmann, Diana; Schubert, Kathrin; Joshi, Pushpa R; Baty, Karen; Blakely, Emma L; Zierz, Stephan; Taylor, Robert W; Deschauer, Marcus 
Title:
A novel m.7539C>T point mutation in the mt-tRNA(Asp) gene associated with multisystemic mitochondrial disease. 
Abstract:
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...    »
 
Journal title abbreviation:
Neuromuscul Disord 
Year:
2015 
Journal volume:
25 
Journal issue:
Pages contribution:
81-4 
Language:
eng 
Print-ISSN:
0960-8966 
TUM Institution:
Neurologische Klinik und Poliklinik