A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

Mitochondrial DNA variants in the MT-TM (mt-tRNA(Met)) gene are rare, typically associated with myopathic phenotypes. We identified a novel MT-TM variant resulting in prolonged seizures with childhood-onset myopathy, retinopathy, short stature and elevated CSF lactate associated with bilateral basal...

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Detalles Bibliográficos
Autores principales: Lim, Albert Z., Blakely, Emma L., Baty, Karen, He, Langping, Hopton, Sila, Falkous, Gavin, McWilliam, Kenneth, Cozens, Alison, McFarland, Robert, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Science 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617384/
https://www.ncbi.nlm.nih.gov/pubmed/31022467
http://dx.doi.org/10.1016/j.mito.2019.04.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6617384/
https://www.ncbi.nlm.nih.gov/pubmed/31022467
http://dx.doi.org/10.1016/j.mito.2019.04.007

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