MORC2 gene de novo mutation leads to Charcot–Marie–Tooth disease type 2Z: A pediatric case report and literature review

RATIONALE: Mutations of the MORC2 gene have most commonly been associated with autosomal-dominant Charcot–Marie–Tooth disease type 2Z (CMT 2Z), while the impact of MORC2 mutations in CMT 2Z on neuronal biology and their phenotypic consequences in patients remain to be clarified. PATIENT CONCERNS: We...

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Detalles Bibliográficos
Autores principales: Yang, Haiyan, Yang, Sai, Kang, Qingyun, Yang, Liming, Liao, Hongmei, Wu, Liwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448061/
https://www.ncbi.nlm.nih.gov/pubmed/34664855
http://dx.doi.org/10.1097/MD.0000000000027208

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8448061/
https://www.ncbi.nlm.nih.gov/pubmed/34664855
http://dx.doi.org/10.1097/MD.0000000000027208

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