Novel TRPV4 mutation in a large Chinese family with congenital distal spinal muscular atrophy, skeletal dysplasia and scaly skin

This study describes a large Chinese family with a novel mutation in the TRPV4 gene. Nineteen individuals from this family were investigated. Clinical, electrophysiological, and radiographic examinations were performed.

Source: Journal of the Neurological Sciences - September 21, 2020 Category: Neurology Authors: Ying Liu, Xuejing Yan, Yongzhen Chen, Zhiyi He, Yi Ouyang Tags: Clinical short communication Source Type: research