Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat.

doi:10.1007/BF00887824

Article

Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat.

Journal of neurology - 1 Jan 1995

Jaspert A, Fahsold R, Grehl H, Claus D

Abstract excerpt

An unstable DNA sequence of a gene encoding a protein kinase has been identified as the molecular basis of myotonic dystrophy. The correlation between different symptoms of myotonic dystrophy and the size of this unstable base triplet (CTG)n repeat was investigated in 14 patients. DNA was prepared from whole blood by standard procedures. Detailed clinical, psychological, electrophysiological (quantified...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat.

Abstract excerpt

Topics

Myotonic dystrophy: correlation of clinical symptoms with the size of the CTG trinucleotide repeat.

Abstract excerpt

Topics

Related research