Which gene is mutated in DM1?

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Prepare for the Muscular Dystrophy Test with comprehensive flashcards and multiple-choice questions. Access detailed hints and explanations for each question to enhance your study experience. Equip yourself for success on your upcoming exam!

Multiple Choice

Which gene is mutated in DM1?

Explanation:
DM1 is caused by a CTG trinucleotide repeat expansion in the DMPK gene. This expansion produces a toxic RNA that disrupts the normal splicing of many transcripts, leading to the multi-systemic features of myotonic dystrophy type 1 (myotonia, progressive weakness, cataracts, endocrine issues, cardiac conduction defects, etc.). The disease typically worsens with larger repeats and can show anticipation, especially in congenital DM1. Other genes listed are associated with different muscular dystrophies: DMD with Duchenne/Becker via dystrophin, LMNA with Emery-Dreifuss or related dystrophies, and SGCA with LGMD2D. So the gene mutated in DM1 is DMPK.

DM1 is caused by a CTG trinucleotide repeat expansion in the DMPK gene. This expansion produces a toxic RNA that disrupts the normal splicing of many transcripts, leading to the multi-systemic features of myotonic dystrophy type 1 (myotonia, progressive weakness, cataracts, endocrine issues, cardiac conduction defects, etc.). The disease typically worsens with larger repeats and can show anticipation, especially in congenital DM1. Other genes listed are associated with different muscular dystrophies: DMD with Duchenne/Becker via dystrophin, LMNA with Emery-Dreifuss or related dystrophies, and SGCA with LGMD2D. So the gene mutated in DM1 is DMPK.

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