A novel PMP22 insertion mutation causing Charcot–Marie–Tooth disease type 3: A case report

RATIONALE: Charcot–Marie–Tooth disease (CMT) is a group of hereditary neuropathies with clinical features of muscle atrophy, sensory loss, and foot deformities. CMT is related to a number of genes, such as peripheral myelin protein 22 gene (PMP22). Missense mutations, small deletion mutations, and d...

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Detalles Bibliográficos
Autores principales: Han, Liang, Huang, Yanjing, Nie, Yuan, Li, Jing, Chen, Gang, Tu, Shenghao, Shen, Pan, Chen, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
3500
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982204/
https://www.ncbi.nlm.nih.gov/pubmed/33726003
http://dx.doi.org/10.1097/MD.0000000000025163

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7982204/
https://www.ncbi.nlm.nih.gov/pubmed/33726003
http://dx.doi.org/10.1097/MD.0000000000025163

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