Homozygous TRPV4 Mutation Broadens the Phenotypic Spectrum of Congenital Spinal Muscular Atrophy and Arthrogryposis: A Case Report

Transient receptor potential vanilloid 4 (TRPV4) mutations are known to cause inherited axonal neuropathies and skeletal dysplasia. TRPV4 mutations are associated with distal hereditary motor neuropathies (dHMN), which distinctly involve motor deficits. A 1 ½-year-old boy presented at the clinic wit...

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Detalles Bibliográficos
Autores principales: Lugo, Elyette, Graulau, Eric, Ramos Cortes, Edwardo, Carlo, Simón, Ramírez, Norman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495693/
https://www.ncbi.nlm.nih.gov/pubmed/37706131
http://dx.doi.org/10.7759/cureus.43413

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10495693/
https://www.ncbi.nlm.nih.gov/pubmed/37706131
http://dx.doi.org/10.7759/cureus.43413

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