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The mitochondrial A3243G mutation presenting as severe cardiomyopathy
L Vilarinho1, F M Santorelli, M J Rosas
1Department of Clinical Biology, Instituto de Genética Médica, Porto, Portugal.
Journal of Medical Genetics
|July 1, 1997
Summary
A mitochondrial DNA mutation (MELAS) caused severe lactic acidosis and cardiomyopathy in a child. This genetic defect, present in his muscle and blood, was also found in milder forms in his mother and brother.
Area of Science:
- Genetics
- Mitochondrial Diseases
- Cardiology
Background:
- Dilated cardiomyopathy can present with severe lactic acidosis.
- Mitochondrial diseases, such as MELAS, are known to affect multiple organ systems.
- The A3243G mutation in mitochondrial DNA is a common cause of MELAS syndrome.