MMC (MATERNAL MYOPATHY WITH CARDIOMYOPATHY) MUTATION DETECTION

THIS ASSAY DETECTS MUTATIONS IN THE MITOCHONDRIAL DNA WHICH ARE RESPONSIBLE FOR MATERNAL INHERITANCE OF MYOPATHIES WITH CARDIOMYOPATHY. MITOCHONDRIAL CARDIOMYOPATHY CAN BE DESCRIBED AS A MYOCARDIAL CONDITION CHARACTERIZED BY ABNORMAL HEART-MUSCLE STRUCTURE, FUNCTION, OR BOTH SECONDARY TO GENETIC DEFECTS INVOLVING THE MITOCHONDRIAL RESPIRATORY CHAIN, IN THE ABSENCE OF CONCOMITANT CORONARY ARTERY DISEASE, HYPERTENSION, VALVULAR DISEASE OR CONGENITAL HEART DISEASE. THE TYPICAL CARDIAC MANIFESTATIONS ARE HYPERTROPHIC AND DILATED CARDIOMYOPATHY, ARRHYTHMIAS, LEFT VENTRICULAR MYOCARDIAL NON-COMPACTION AND HEART FAILURE WHICH CAN WORSEN ACUTELY DURING A METABOLIC CRISIS.