New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity

OBJECTIVE: To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype–genotype relationship. METHODS: Patient 1 is a 23‐year‐old man with congenital foot deformity and life‐long distal mus...

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Detalles Bibliográficos
Autores principales: Tian, Wo‐Tu, Liu, Li‐Hua, Zhou, Hai‐Yan, Zhang, Chao, Zhan, Fei‐Xia, Zhu, Ze‐Yu, Chen, Sheng‐Di, Luan, Xing‐Hua, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034498/
https://www.ncbi.nlm.nih.gov/pubmed/32023010
http://dx.doi.org/10.1002/acn3.50985

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7034498/
https://www.ncbi.nlm.nih.gov/pubmed/32023010
http://dx.doi.org/10.1002/acn3.50985

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