Work

Novel Loss of Function in the AGK Gene

Year: 2019

Type: article

Abstract: The authors present a case of mitochondrial cardiomyopathy due to a novel mutation of AGK gene that led to progressive heart failure. The cardiac magnetic resonance image findings of diffusely elevated relaxation time and increase in extracellular volume in the myocardium without early or late gadolinium enhancement may suggest mitochondrial cardiomyopathy. The authors emphasized the multidisciplinary team approach in the care of patients with mitochondrial cardiomyopathies. ( Level of Difficulty: Advanced. )

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2019.05.007

Authors: Bibhuti B. Das, Lazaro E. Hernandez, Parul Jayakar, Kathryn C. Chatfield, Maryanne Chrisant

Institutions: Memorial Healthcare System, Joe DiMaggio Children's Hospital, Miami Children's Hospital, Children's Hospital Colorado

Language: English

Topic: Mitochondrial Function and Pathology

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $850