Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease

Horga, A; Laura, M; Jaunmuktane, Z; Jerath, NU; Gonzalez, MA; Polke, JM; Poh, R; Blake, JC; Liu, YT; Wiethoff, S; Bettencourt, C; Lunn, MPT; Manji, H; Hanna, MG; Houlden, H; Brandner, S; Zuchner, S; Shy, M; Reilly, MM

Reilly, MM (reprint author), UCL Inst Neurol, MRC Ctr Neuromuscular Dis, Box 108,Queen Sq, London WC1N 3BG, England.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2017; 88 (7): 575

Abstract

Objectives To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament lig......

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