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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Hlavní autoři:	Charlène Lhuissier, Bart E. Wagner, Amy Vincent, Gaëtan Garraux, Olivier Hougrand, Rudy Van Coster, Valerie Benoit, Deniz Karadurmus, Guy Lenaers, Naïg Gueguen, Arnaud Chevrollier, Isabelle Maystadt
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2022-09-01
Edice:	Frontiers in Neurology
Témata:	mitochondrial fission DRP1 DNM1L encephalopathy EMPF1
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fneur.2022.937885/full
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