A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

A novel phenotype with splicing mutation identified in a Chinese family with desminopathy

Abstract. Background:. Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations. Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia. Combined with genotype, it helps us precisely diagno...

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Bibliographic Details
Main Authors: Peng Fan, Chao-Xia Lu, Xue-Qi Dong, Di Zhu, Kun-Qi Yang, Ke-Qiang Liu, Di Zhang, Ying Zhang, Xu Meng, Hui-Qiong Tan, Li-Tian Yu, Ke-Fei Dou, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou, Yi Cui
Format: Article
Language:English
Published: Wolters Kluwer 2019-01-01
Series:Chinese Medical Journal
Online Access:http://journals.lww.com/10.1097/CM9.0000000000000001

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http://journals.lww.com/10.1097/CM9.0000000000000001

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