New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity-MedSci.cn

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

Tian, WT; Liu, LH; Zhou, HY; Zhang, C; Zhan, FX; Zhu, ZY; Chen, SD; Luan, XH; Cao, L

Chen, SD; Luan, XH; Cao, L (corresponding author), Shanghai Jiao Tong Univ, Sch Med, Rui Jin Hosp, Dept Neurol, Shanghai, Peoples R China.; Chen, SD; Luan, XH; Cao, L (corresponding author), Shanghai Jiao Tong Univ, Sch Med, Rui Jin Hosp, Inst Neurol, Shanghai, Peoples R China.; Chen, SD; Luan, XH; Cao, L (corresponding author), Shanghai Jiao Tong Univ, Sch Med, Rui Jin Hosp North, Shanghai, Peoples R China.

Abstract

Objective To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and......

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

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