Nianwei Zhou Lu Tang Yingying Jiang Shengmei Qin Jie Cui Yanan Wang Wenqing Zhu Weipeng Zhao Cuizhen Pan Xianhong Shu
10.14744/AnatolJCardiol.2018.53258
Anatol J Cardiol
2019 Jan;21(1):18-24.
CC BY-NC-SA
https://pubmed.ncbi.nlm.nih.gov/30587702/
Cardiomyopathies / genetics Electron Transport Complex I / genetics Mitochondrial Proteins / genetics
Cardiomyopathies / genetics Electron Transport Complex I / genetics Mitochondrial Proteins / genetics Case Reports Adult Asian People / genetics Cardiomegaly / complications Cardiomyopathies / complications Cardiomyopathies / diagnosis Cardiomyopathies / diagnostic imaging Diagnosis, Differential Echocardiography Electrocardiography Exercise Tolerance Exome Sequencing Female Humans Hypertension, Pulmonary / complications Magnetic Resonance Imaging Male Middle Aged Mutation Pedigree Young Adult Mitochondrial Proteins MT-ND5 protein, human Electron Transport Complex I
PMC6382902
30587702
Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance
2019