Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation

Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable...

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Detalles Bibliográficos
Autores principales: Ng, Yi Shiau, Hardy, Steven A., Shrier, Venice, Quaghebeur, Gerardine, Mole, David R., Daniels, Matthew J., Downes, Susan M., Freebody, Jane, Fratter, Carl, Hofer, Monika, Nemeth, Andrea H., Poulton, Joanna, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pergamon Press 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066368/
https://www.ncbi.nlm.nih.gov/pubmed/27618137
http://dx.doi.org/10.1016/j.nmd.2016.08.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066368/
https://www.ncbi.nlm.nih.gov/pubmed/27618137
http://dx.doi.org/10.1016/j.nmd.2016.08.009

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