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

doi:10.1007/BF00887824

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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 prepare...

Topics

Adult
Aged
Base Sequence
Chromosomes, Human, Pair 19
DNA
Female
Humans
Infant
Male
Middle Aged
Molecular Sequence Data
Mosaicism
Mutation
Myotonic Dystrophy
Oligodeoxyribonucleotides
Repetitive Sequences, Nucleic Acid

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