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    SubjectsMedicinePedigree — Mitochondrial Heteroplasmy with Variable Expressivity (MELAS)
    ClinicalMedicine

    Pedigree — Mitochondrial Heteroplasmy with Variable Expressivity (MELAS)

    1 MCQs in Medicine for NEET PG

    1 Hard
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    Sample Questions

    hard

    A 28-year-old woman presents with recurrent stroke-like episodes, seizures, and elevated serum lactate. Muscle biopsy shows ragged red fibers. Genetic testing confirms m.3243A>G mutation in her mtDNA. Her two siblings have the same mutation but with markedly different clinical severity — one is asymptomatic, the other severely affected with early-onset diabetes and deafness. The inheritance pattern marked **A** in the pedigree diagram demonstrates mitochondrial inheritance with heteroplasmy. Which of the following BEST explains why her asymptomatic sibling has not yet developed clinical features despite carrying the same pathogenic mutation?

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