Expanding the spectrum of neonatal-onset AIFM1-associated disorders.

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

Annals of clinical and translational neurology（2023）

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摘要

This is the first AIFM1 case associated with neonatal seizures and diffuse white matter involvement with relative sparing of basal ganglia, in the absence of clinical signs suggestive of myopathy or motor neuron disease.

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