Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.

doi:10.1006/geno.1995.1099

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Article

Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.

Genomics - 1 Jul 1995

Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage V L, Siciliano M J

Abstract excerpt

The myotonic dystrophy (DM) mutation has been identified as an unstable, expanded (CTG)n repeat in the 3' untranslated region of a gene designated DM protein kinase (DMPK). Both decreased and increased levels of mutant DMPK mRNA as well as decreased levels of protein have been variously reported...

Topics

Adolescent
Adult
Aged
Alleles
Animals
Base Sequence
CHO Cells
Child
Child, Preschool
Chromosomes, Human, Pair 19
Cricetinae
Female
Fibroblasts
Humans
Hybrid Cells
Infant, Newborn
Male
Middle Aged

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