Article
A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy.
PLoS genetics - 1 Feb 2016
Hong Young Bin, Joo Jaesoon, Hyun Young Se, Kwak Geon, Choi Yu-Ri, Yeo Ha Kyung, Jwa Dong Hwan, Kim Eun Ja, Mo Won Min, Nam Soo Hyun, Kim Sung Min, Yoo Jeong Hyun, Koo Heasoo, Park Hwan Tae, Chung Ki Wha, Choi Byung-Ok
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of peripheral neuropathies with diverse genetic causes. In this study, we identified p.I43N mutation in PMP2 from a family exhibiting autosomal dominant demyelinating CMT neuropathy by whole exome sequencing and characterized the clinical features. The age at onset was the first to second decades and muscle atrophy started in the distal portion of the...
Topics
- Amino Acid Sequence
- Animals
- Charcot-Marie-Tooth Disease
- Chromosome Segregation
- Computer Simulation
- Demyelinating Diseases
- Electrophysiological Phenomena
- Family
- Female
- Genes, Dominant