Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW()

We report a patient harboring a de novo m.5540G>A mutation affecting the MT-TW gene coding for the mitochondrial tryptophan-transfer RNA. This patient presented with atonic–myoclonic epilepsy, bilateral sensorineural hearing loss, ataxia, motor regression, ptosis, and pigmentary retinopathy. Our...

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Detalles Bibliográficos
Autores principales: Granadillo, Jorge L., Moss, Timothy, Lewis, Richard A., Austin, Elise G., Kelfer, Howard, Wang, Jing, Wong, Lee-Jun C., Scaglia, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185924/
https://www.ncbi.nlm.nih.gov/pubmed/25302159
http://dx.doi.org/10.1016/j.ymgmr.2013.12.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4185924/
https://www.ncbi.nlm.nih.gov/pubmed/25302159
http://dx.doi.org/10.1016/j.ymgmr.2013.12.001

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