Article
Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.
International journal of molecular sciences - 27 May 2021
Mazzaccara Cristina, Mirra Bruno, Barretta Ferdinando, Caiazza Martina, Lombardo Barbara, Scudiero Olga, Tinto Nadia, Limongelli Giuseppe, Frisso Giulia
Abstract excerpt
Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical, laboratory, and neuroimaging investigations. Currently, the molecular screening for MCM is fundamental part of MDs management and allows achieving the definitive...
Topics
- Alleles
- Cardiomyopathies
- Disease Susceptibility
- Genes, Mitochondrial
- Genetic Predisposition to Disease
- Genetic Testing
- Humans
- Mitochondria
- Mitochondrial Diseases
- Molecular Epidemiology