Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2. [electronic resource]
Producer: 20210723Description: 68-72 p. digitalISSN:- 1559-1174
- 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
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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