Cargando…

Overlapping Leigh Syndrome/Myoclonic Epilepsy With Ragged Red Fibres in an Adolescent Patient With a Mitochondrial DNA A8344G Mutation

We present the case of a 16-year-old boy with a family history of epilepsy who presented with acute respiratory failure, limb weakness, diabetes mellitus, sinus tachycardia, lactic acidosis, and pneumonia. He went on to develop cranial nerve palsy, myoclonus, generalized seizures, ataxia, recurrent...

Descripción completa

Detalles Bibliográficos
Autores principales: Shen, Cunzhou, Xian, Wenbiao, Zhou, Hongyan, Li, Xunhua, Liang, Xiuling, Chen, Ling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146370/
https://www.ncbi.nlm.nih.gov/pubmed/30271374
http://dx.doi.org/10.3389/fneur.2018.00724