FDX2 and ISCU Gene Variations Lead to Rhabdomyolysis With Distinct Severity and Iron Regulation

BACKGROUND AND OBJECTIVES: To determine common clinical and biological traits in 2 individuals with variants in ISCU and FDX2, displaying severe and recurrent rhabdomyolyses and lactic acidosis. METHODS: We performed a clinical characterization of 2 distinct individuals with biallelic ISCU or FDX2 v...

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Detalles Bibliográficos
Autores principales: Montealegre, Sebastian, Lebigot, Elise, Debruge, Hugo, Romero, Norma, Héron, Bénédicte, Gaignard, Pauline, Legendre, Antoine, Imbard, Apolline, Gobin, Stéphanie, Lacène, Emmanuelle, Nusbaum, Patrick, Hubas, Arnaud, Desguerre, Isabelle, Servais, Aude, Laforêt, Pascal, van Endert, Peter, Authier, François Jérome, Gitiaux, Cyril, de Lonlay, Pascale
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8771665/
https://www.ncbi.nlm.nih.gov/pubmed/35079622
http://dx.doi.org/10.1212/NXG.0000000000000648

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