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    SubjectsMedicineMyotonic Dystrophy Type 1 (DMPK, AD)
    ClinicalMedicine

    Myotonic Dystrophy Type 1 (DMPK, AD)

    1 MCQs in Medicine for NEET PG

    1 Medium
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    Sample Questions

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    A 32-year-old man presents with progressive hand weakness, difficulty releasing a doorknob, and bilateral ptosis with temporal wasting. Examination reveals grip myotonia on handshake and percussion myotonia of the thenar eminence. Slit-lamp examination shows posterior subcapsular 'Christmas-tree' cataracts. ECG demonstrates first-degree AV block. Genetic testing reveals a heterozygous CTG repeat expansion (650 repeats) in the 3' UTR of the DMPK gene on the structure marked **A**. Which of the following best explains the pathogenic mechanism of this disorder?

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