AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.

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作者： Fabiana,Colucci ^[1] ; Marcella,Neri ^[2] ; Fernanda,Fortunato ^[3] ; Alessandra,Ferlini ^[3] ; Rosalba,Carrozzo ^[3] ; Alessandra,Torraco ^[4] ; Eleonora,Lamantea ^[4] ; Andrea,Legati ^[5] ; Ginevra,Tecilla ^[5] ; Maura,Pugliatti ^[6] ; Mariachiara,Sensi ^[6]

作者单位： Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy. fabiana.colucci9@gmail.com. ^[1] Department of Neuroscience and Rehabilitation, Azienda Ospedaliero-Universitaria S. Anna, Ferrara, Italy. fabiana.colucci9@gmail.com. ^[2] Department of Medical Sciences, Unit of Medical Genetics, Universita Degli Studi Di Ferrara, Ferrara, Italy. ^[3] Unit of Muscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. ^[4] Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. ^[5] Department of Neuroscience and Rehabilitation, University of Ferrara, Ferrara, Italy. ^[6] Department of Neuroscience and Rehabilitation, Azienda Ospedaliero-Universitaria S. Anna, Ferrara, Italy. ^[7]

关键词 AFG3L2 gene Late-onset cerebellar ataxia Recessive ataxia SPAX5

主题词人类(Humans);脊髓小脑变性(Spinocerebellar Degenerations);小脑共济失调(Cerebellar Ataxia);突变(Mutation);意大利(Italy);ATP依赖性蛋白酶类(ATP-Dependent Proteases)

DOI 10.1007/s12311-022-01497-y

PMID 36447112

发布时间 2023-11-20

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