A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.

Abstract

The neurofilament light polypeptide (NEFL) gene mutations cause mainly autosomal dominant Charcot-Marie-Tooth disease (CMT) and rarely the recessive forms of CMT. We describe a 13-year-old girl born of consanguineous parents. She presented an early onset of gait disturbance with weakness in lower extremities during the first decade. Nerve conduction… (More)
DOI: 10.1016/j.nmd.2017.09.018

Topics

  • Presentations referencing similar topics