Novel mutation in the periaxin gene causal to Charcot–Marie–Tooth disease type 4F

Charcot–Marie–Tooth (CMT) disease is the most common hereditary neuropathy. Mutations in the periaxin gene (PRX) can cause CMT type 4F, an autosomal recessive neuropathy, which is clinically characterized by slowly progressive distal muscle atrophy and weakness, with pes cavus deformity of the foot,...

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Detalles Bibliográficos
Autores principales: Chen, Yu-hui, Zhang, Hua, Meng, Ling-bing, Tang, Xiao-yan, Gong, Tao, Yin, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Special Issue: Rare Diseases: Advances in Diagnosis, Prevention, Treatment and Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7581982/
https://www.ncbi.nlm.nih.gov/pubmed/31426691
http://dx.doi.org/10.1177/0300060519862064

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