换一批
换一批Giant Axonal Neuropathy with Unusual Neuroimagings Caused by Compound Heterozygous Mutations in GAN Gene
摘要To the Editor:Giant axonal neuropathy (GAN) is a rare neurodegenerative disease caused by recessive mutations in GAN gene encoding gigaxonin.Nerve pathology of GAN shows typical giant axon with accumulating intermediate filaments.The disease is progressive with impairments in both peripheral and central nervous system.Here,we reported a case presenting gait disturbance,giant axon in nerve biopsy,and abnormalities in brain magnetic resonance imaging (MRI).
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栏目名称
Correspondence
DOI
10.4103/0366-6999.241804
发布时间
2018-11-05
基金项目
the National Natural Science Foundation of China
Shanghai Health and Family Planning Commission key projects
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