Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C

INTRODUCTION: Mitochondrial diseases exhibit wide phenotypic heterogeneity, and can present as progressive myoclonic epilepsy. SUMMARY: We report a case of adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies due to m.14487T>C, a rare mitochondrial gene mutatio...

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Detalles Bibliográficos
Autores principales: Khoo, Anthony, Naidu, Saadnah, Wijayendran, Surapi Bhairavi, Merve, Ashirwad, Bremner, Fion, Sidhu, Meneka Kaur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8211039/
https://www.ncbi.nlm.nih.gov/pubmed/34223155
http://dx.doi.org/10.1136/bmjno-2021-000180

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8211039/
https://www.ncbi.nlm.nih.gov/pubmed/34223155
http://dx.doi.org/10.1136/bmjno-2021-000180

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