A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. [electronic resource]
- Neurogenetics Feb 2005
- 49-50 p. digital
Publication Type: Case Reports; Letter
1364-6745
10.1007/s10048-004-0202-3 doi
Adult Axons Base Sequence Charcot-Marie-Tooth Disease--classification DNA Primers Female Humans Male Mutation Neurofilament Proteins--genetics Reference Values