Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
Jordanova A; De Jonghe P; Boerkoel CF; Takashima H; De Vriendt E; Ceuterick C; Martin JJ; Butler IJ; Mancias P; Papasozomenos SCh; Terespolsky D; Potocki L; Brown CW; Shy M; Rita DA; Tournev I; Kremensky I; Lupski JR; Timmerman V; Brain: A Journal Of Neurology, 2003, vol. 126, issue Pt 3, p 590, ISSN 00068950. ISBN 00068950.

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