Mitochondrial inheritance · USMLE Step 1

Which inheritance pattern best describes transmission of mutations in mitochondrial DNA (mtDNA) in humans?

  1. Autosomal dominant inheritance
  2. X-linked recessive inheritance
  3. Mitochondrial (maternal) inheritance
  4. Autosomal recessive inheritance
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Correct answer: Mitochondrial (maternal) inheritance

Human mitochondrial DNA is inherited almost exclusively from the mother — sperm mitochondria are typically destroyed after fertilization — so mtDNA mutations follow a maternal, non-Mendelian inheritance pattern.

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