Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders

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 MRI and M...

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Detalles Bibliográficos
Autores principales: Zambon, Alberto A., Ghezzi, Daniele, Baldoli, Cristina, Cutillo, Gianni, Fontana, Katia, Sofia, Valentina, Patricelli, Maria Grazia, Nasca, Alessia, Vinci, Stefano, Spiga, Ivana, Lamantea, Eleonora, Fanelli, Giovanna F., Sora, Maria Grazia Natali, Rovelli, Rosanna, Poloniato, Antonella, Carrera, Paola, Filippi, Massimo, Barera, Graziano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578896/
https://www.ncbi.nlm.nih.gov/pubmed/37644805
http://dx.doi.org/10.1002/acn3.51876

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578896/
https://www.ncbi.nlm.nih.gov/pubmed/37644805
http://dx.doi.org/10.1002/acn3.51876

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