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    SubjectsPediatricsPedigree — Friedreich Ataxia Autosomal Recessive
    ClinicalPediatrics

    Pedigree — Friedreich Ataxia Autosomal Recessive

    1 MCQs in Pediatrics for NEET PG

    1 Hard
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    hard

    A 12-year-old boy from rural Rajasthan presents with progressive gait ataxia, areflexia at the knees and ankles with extensor plantar responses, and pes cavus deformity. Genetic testing reveals homozygous expansion of the structure marked **C** in the pedigree diagram. His echocardiogram shows concentric left ventricular hypertrophy. Which of the following best describes the molecular pathology underlying his cardiac involvement?

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