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Dokumenttyp:
journal article 
Autor(en):
Lehmann, Diana; Schubert, Kathrin; Joshi, Pushpa R; Baty, Karen; Blakely, Emma L; Zierz, Stephan; Taylor, Robert W; Deschauer, Marcus 
Titel:
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...    »
 
Zeitschriftentitel:
Neuromuscul Disord 
Jahr:
2015 
Band / Volume:
25 
Heft / Issue:
Seitenangaben Beitrag:
81-4 
Sprache:
eng 
Print-ISSN:
0960-8966 
TUM Einrichtung:
Neurologische Klinik und Poliklinik