New phenotype of DCTN1‐related spectrum: early‐onset dHMN plus congenital foot deformity
Abstract 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 dis...
Main Authors: | Wo‐Tu Tian, Li‐Hua Liu, Hai‐Yan Zhou, Chao Zhang, Fei‐Xia Zhan, Ze‐Yu Zhu, Sheng‐Di Chen, Xing‐Hua Luan, Li Cao |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-02-01
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Series: | Annals of Clinical and Translational Neurology |
Online Access: | https://doi.org/10.1002/acn3.50985 |
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