N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy

JOURNAL OF THE NEUROLOGICAL SCIENCES

卷:365

Letter

Yang, Yi¹  Gu, Li-Qiang¹  Burnette, William B.^2,3  Li, Jun^2,3,4 

[1] Sun Yat Sen Univ, Affiliated Hosp 1, Dept Microsurg & Orthoped Trauma, Guangzhou 510275, Guangdong, Peoples R China

[2] Vanderbilt Univ, Med Ctr, Vanderbilt Brain Inst, Dept Neurol, Nashville, TN 37232 USA

[3] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN 37232 USA

[4] Tennessee Valley Healthcare Syst, Nashville Campus, Nashville, TN USA

关键词: Charcot-Marie-Tooth disease;    NEFL;    Dysmyelination;    Axonal loss;    Myelin;    Nerve conduction study;    Cerebellar atrophy;   

DOI  :  10.1016/j.jns.2016.04.007

来源: Elsevier

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