Deng, Sheng

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