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Article

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

Annals of clinical and translational neurology - 1 Feb 2020

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

Abstract excerpt

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 muscle weakness and atrophy. Patient 2 is a 48-year-old woman with adult-onset progressive weakness, lower limbs...

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Age of Onset
Dynactin Complex
Foot Deformities, Congenital
Muscular Atrophy, Spinal
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32023010
DOI: 10.1002/acn3.50985
PMCID: PMC7034498

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