A Case of Multiple Mitochondrial Dysfunctions Syndrome 4 with Novel ISCA2 Variants, Mimicking Post-Infectious Encephalitis

ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy after febrile episode, mimicking post-infectious encephaliti...

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Detalles Bibliográficos
Autores principales: Chin, Hyungjin, Cho, Jaeso, Kim, Woo Joong, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Chae, Jong Hee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617010/
https://www.ncbi.nlm.nih.gov/pubmed/37915614
http://dx.doi.org/10.1177/2329048X231210421

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10617010/
https://www.ncbi.nlm.nih.gov/pubmed/37915614
http://dx.doi.org/10.1177/2329048X231210421

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