Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot–Marie–Tooth disease.
Jordanova, A.; De Jonghe, P.; Boerkoel, C. F.; Takashima, H.; De Vriendt, E.; Ceuterick, C.; Martin, J.‐J.; Butler, I. J.; Mancias, P.; Papasozomenos, S. Ch.; Terespolsky, D.; Potocki, L.; Brown, C. W.; Shy, M.; Rita, D. A.; Tournev, I.; Kremensky, I.; Lupski, J. R.; Timmerman, V.; Brain: A Journal of Neurology, 2003, vol. 126, issue 3, p 590, ISSN 00068950. ISBN 00068950.

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