Recessive AFG3L2 Mutation Causes Progressive Microcephaly, Early Onset Seizures, Spasticity, and Basal Ganglia Involvement.
Pediatric Neurology（2017）
摘要
Our findings add to the phenotypic, neuroradiological, genetic, and biochemical spectrum of AFG3L2 mutations.
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关键词
AFG3L2,basal ganglia,early onset seizures,neurodegeneration
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