DM2 is associated with a repeat expansion in which gene?

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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

DM2 is associated with a repeat expansion in which gene?

Explanation:
DM2 arises from a CCTG repeat expansion in the CNBP gene (also known as ZNF9) on chromosome 3. This repeat expansion occurs in an intron and leads to RNA toxicity that disrupts multiple splicing events, producing the proximal myotonic myopathy features. This is different from DM1, which is caused by a CTG repeat expansion in the DMPK gene. The other genes listed are linked to different muscular dystrophy or myopathy conditions (for example, LMNA with Emery-Dreifuss–type dystrophy and COL6A1 with collagen VI-related myopathies).

DM2 arises from a CCTG repeat expansion in the CNBP gene (also known as ZNF9) on chromosome 3. This repeat expansion occurs in an intron and leads to RNA toxicity that disrupts multiple splicing events, producing the proximal myotonic myopathy features. This is different from DM1, which is caused by a CTG repeat expansion in the DMPK gene. The other genes listed are linked to different muscular dystrophy or myopathy conditions (for example, LMNA with Emery-Dreifuss–type dystrophy and COL6A1 with collagen VI-related myopathies).

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