We have located links that may give you full text access.
A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.
Neuromuscular Disorders : NMD 2018 January
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 velocity of median nerve was 24 m/s and amplitude of compound muscle action potential was 2.2 mV. Sensory nerve action potential was not recordable. Sural nerve biopsy showed severe loss of the large myelinated fibers. Electron microscopy revealed absence of neurofilaments in both myelinated and unmyelinated axons. Genetic analysis identified a novel homozygous nonsense mutation in NEFL c.487G>T (p.Glu163*) as the potential causative mutation in this patient. Our study expands the mutation spectrum of NEFL-related neuropathy.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app