title: N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.
authors.affiliation: Department of Microsurgery and Orthopedic Trauma, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Microsurgery and Orthopedic Trauma, the First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
authors.forename: Li-Qiang
authors.initials: LQ
authors.lastname: Gu
authors.affiliation: Department of Neurology, Vanderbilt Brain Institute and Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA.
authors.forename: William B
authors.initials: WB
authors.lastname: Burnette
authors.affiliation: Department of Neurology, Vanderbilt Brain Institute and Center for Human Genetics Research, Vanderbilt University Medical Center, Nashville, TN, USA; Tennessee Valley Healthcare System - Nashville Campus, TN, USA. Electronic address: jun.li.2@vanderbilt.edu.
authors.forename: Jun
authors.initials: J
authors.lastname: Li
mesh_terms: D000328:Adult; D001284:Atrophy; D002526:Cerebellar Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D002531:Cerebellum / Q000000981:diagnostic imaging*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D016900:Neurofilament Proteins / Q000235:genetics*; D010641:Phenotype; D011115:Polyneuropathies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D016900:Neurofilament Proteins; C044882:neurofilament protein L
keywords: Axonal loss; Cerebellar atrophy; Charcot–Marie–Tooth disease; Dysmyelination; Myelin; NEFL; Nerve conduction study