Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. [electronic resource]
- Neuromolecular medicine 03 2020
- 68-72 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1559-1174
10.1007/s12017-019-08564-4 doi
Adult Axons--pathology Bone Diseases, Developmental--etiology Charcot-Marie-Tooth Disease--epidemiology Exons--genetics Female Genetic Counseling Hearing Loss--etiology Humans Incidence Male Muscle Weakness--etiology Muscular Atrophy, Spinal--epidemiology Mutation Mutation, Missense Pedigree Phenotype Point Mutation TRPV Cation Channels--deficiency United States--epidemiology Vocal Cord Paralysis--etiology