Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy

Pathogenic mitochondrial DNA (mtDNA) point mutations are associated with a wide range of clinical phenotypes, often involving multiple organ systems. We report two patients with isolated myopathy owing to novel mt-tRNA(Ala) variants. Muscle biopsy revealed extensive histopathological findings includ...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Lehmann, Diana, Schubert, Kathrin, Joshi, Pushpa R, Hardy, Steven A, Tuppen, Helen A L, Baty, Karen, Blakely, Emma L, Bamberg, Christian, Zierz, Stephan, Deschauer, Marcus, Taylor, Robert W
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2015
Matèries:
Short Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4519577/
https://ncbi.nlm.nih.gov/pubmed/25873012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.73
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