Question:medium

The chromosome involved in myotonic dystrophy is

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Recall the CTG repeat in the DMPK gene at 19q13.
Updated On: Jun 24, 2026
  • Chromosome 19
  • Chromosome 20
  • Chromosome 21
  • Chromosome 22
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The Correct Option is A

Solution and Explanation

Step 1: Identify the disease class - myotonic dystrophy is a trinucleotide-repeat expansion disorder. Step 2: The expanded $CTG$ repeat sits in the DMPK gene, which is mapped to band $19q13.3$. Step 3: This expansion explains the clinical triad of distal weakness, type I fibre atrophy and the inability to quickly relax a gripped hand (myotonia), with anticipation across generations as the repeat lengthens. Step 4: None of the other listed chromosomes (20, 21, 22) carry the DMPK locus, so by elimination and direct mapping the answer is chromosome 19.\[\boxed{\text{Chromosome 19}}\]
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