Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders

Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders

Abstract Objectives Pathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1‐related disorders. Methods We performed EEG recordings, brain MR...

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Bibliographic Details
Main Authors: Alberto A. Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga, Eleonora Lamantea, Giovanna F. Fanelli, Maria Grazia Natali Sora, Rosanna Rovelli, Antonella Poloniato, Paola Carrera, Massimo Filippi, Graziano Barera
Format: Article
Language:English
Published: Wiley 2023-10-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51876

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https://doi.org/10.1002/acn3.51876

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