Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant

Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. Here, we report a case of an adult female patient presenti...

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Detalles Bibliográficos
Autores principales: Lhuissier, Charlène, Wagner, Bart E., Vincent, Amy, Garraux, Gaëtan, Hougrand, Olivier, Van Coster, Rudy, Benoit, Valerie, Karadurmus, Deniz, Lenaers, Guy, Gueguen, Naïg, Chevrollier, Arnaud, Maystadt, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538651/
https://www.ncbi.nlm.nih.gov/pubmed/36212643
http://dx.doi.org/10.3389/fneur.2022.937885

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9538651/
https://www.ncbi.nlm.nih.gov/pubmed/36212643
http://dx.doi.org/10.3389/fneur.2022.937885

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