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    SubjectsPediatricsPedigree — Skewed X-Inactivation Producing a Symptomatic Female DMD Carrier (Lyonization)
    ClinicalPediatrics

    Pedigree — Skewed X-Inactivation Producing a Symptomatic Female DMD Carrier (Lyonization)

    1 MCQs in Pediatrics for NEET PG

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    hard

    A 16-year-old girl from a family with Duchenne muscular dystrophy (DMD) presents with progressive proximal muscle weakness over 2 years, calf pseudohypertrophy, and an elevated serum CK of 3500 U/L. Genetic testing confirms she is a heterozygous carrier for a frameshift deletion in the DMD gene at Xp21. Echocardiography reveals dilated cardiomyopathy. The mechanism marked **A** in the pedigree — skewed X-inactivation (Lyonization) — explains her symptomatic presentation. Which of the following best describes the molecular basis for her clinical manifestations?

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