[Molecular genetics of myotonic dystrophy].

Article

[Molecular genetics of myotonic dystrophy].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 1995

Miki T, Yamagata H, Ogihara T

Abstract excerpt

The gene for myotonic dystrophy (DM) was found to be an expansion of an unstable CTG repeat located in the 3'-UTR of the putative protein kinase gene. In the general population 5 approximately 37 copies of the repeat are present, but in DM patients the repeat number varies from 50 up to thousands...

Topics

Alleles
Asian People
Female
Humans
Japan
Linkage Disequilibrium
Male
Mutation
Myotonic Dystrophy
Protein Kinases
Trinucleotide Repeats
White People

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