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Medical Genetics Skewed heteroplasmy mtDNA mutation surpasses pathogenic threshold in 1 tissue Examples: A3243G may produce only cardiomyopathy Myopathy with early respiratory involvementMedical Genetics Skewed heteroplasmy – mtDNA mutation surpasses pathogenic threshold in 1 tissue – Examples: A3243G may produce only cardiomyopathy; Myopathy with early respiratory involvement
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