• We describe two novel mtDNA mutations in two patients affected with myopathy• These are the m.8305C>T mutation (MTTK gene) and the m.4440G>A mutation (MTTM gene)• Muscle biopsies showed ragged red fibers and COX-negative fibers in both patients• These two mutations are heteroplasmic and only detected in muscle tissue• These two mutations presented higher mutation load in COX-negative fibers

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