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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...
Autores principales: | Chen, Haofeng, Sun, Chong, Zheng, Yongsheng, Yin, Junxiong, Gao, Mingshi, Zhao, Chongbo, Lin, Jie |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
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 |
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