Myotonic dystrophy type 1: genetics

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Myotonic dystrophy type 1: genetics. It is caused by DMPK gene mutations on chromosome 19q. Fully referenced neurology checklist.

Genetics

  • It is caused by DMPK gene mutations on chromosome 19q
  • It is a CTG repeat disorder

CTG repeats

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References

  1. Turner C, Hilton-Jones D. The myotonic dystrophies: diagnosis and management. JNNP 2010; 81:358-367.
  2. Longman C. Myotonic dystrophy. J R Coll Physicians Edin 2006; 36:51-55.

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