Whole Exome Sequencing Identified a 13 Base Pair MYH7 Deletion-mutation in a Patient with Restrictive Cardiomyopathy and Left Ventricle Hypertrophy

Ann Clin Lab Sci. 2019 Nov;49(6):838-840.

Authors

Liang-Liang Fan¹, Shuai Guo¹, Jie-Yuan Jin¹, Zhi-Jian He¹, Shui-Ping Zhao², Rong Xiang^{3

2}, Wang Zhao⁴

Affiliations

¹ School of Life Sciences, Central South University, Changsha, China.
² The Second Xiangya Hospital of Central South University, Changsha, China.
³ School of Life Sciences, Central South University, Changsha, China shirlesmile@csu.edu.cn.
⁴ The Second Xiangya Hospital of Central South University, Changsha, China 364154748@QQ.COM.

PMID: 31882438

No abstract available

Keywords: Left ventricular hypertrophy; MYH7; Restrictive cardiomyopathy; deletion mutation.

Publication types

Letter

MeSH terms

Cardiac Myosins / genetics*
Cardiomyopathy, Restrictive / genetics*
Exome Sequencing
Female
Humans
Hypertrophy, Left Ventricular / diagnostic imaging
Hypertrophy, Left Ventricular / genetics*
Male
Middle Aged
Myosin Heavy Chains / genetics*
Pedigree
Sequence Deletion*

Substances

MYH7 protein, human
Cardiac Myosins
Myosin Heavy Chains