A TRPV4 mutation caused Charcot-Marie-Tooth disease type 2C with scapuloperoneal muscular atrophy overlap syndrome and scapuloperoneal spinal muscular atrophy in one family: a case report and literature review

BACKGROUND: Charcot-Marie-Tooth disease 2C (CMT2C) and scapuloperoneal spinal muscular atrophy (SPSMA) are different clinical phenotypes of TRPV4 mutation. The mutation of p.R316C has been reported to cause CMT2C and SPSMA separately. CASE PRESENTATION: Here, we reported a Chinese family harboring t...

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Detalles Bibliográficos
Autores principales: Chen, Haofeng, Sun, Chong, Zheng, Yongsheng, Yin, Junxiong, Gao, Mingshi, Zhao, Chongbo, Lin, Jie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10311707/
https://www.ncbi.nlm.nih.gov/pubmed/37391745
http://dx.doi.org/10.1186/s12883-023-03260-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10311707/
https://www.ncbi.nlm.nih.gov/pubmed/37391745
http://dx.doi.org/10.1186/s12883-023-03260-0

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