Instability of normal (CTG)n alleles in the DM kinase gene.

doi:10.1136/jmg.34.10.871

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Article

Instability of normal (CTG)n alleles in the DM kinase gene.

Journal of medical genetics - 1 Oct 1997

Dow D J, Rubinsztein D C, Yates J R, Barton D E, Ferguson-Smith M A

Abstract excerpt

We report on a myotonic dystrophy (DM) family exhibiting instability of normal sized (CTG)n alleles in the DM kinase gene on the non-DM chromosome. At least two mutational events involving normal DM alleles must have occurred in this family; one was characterised as a 34-35 (CTG)n repeat mutation...

Topics

Adult
Alleles
Female
Humans
Male
Myotonic Dystrophy
Myotonin-Protein Kinase
Pedigree
Protein Serine-Threonine Kinases
Trinucleotide Repeats

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