Intergenerational stability of the myotonic dystrophy protomutation.

doi:10.1093/hmg/2.6.705

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Article

Intergenerational stability of the myotonic dystrophy protomutation.

Human molecular genetics - 1 Jun 1993

Barceló J M, Mahadevan M S, Tsilfidis C, MacKenzie A E, Korneluk R G

Abstract excerpt

The amplification of the CTG trinucleotide repeat in myotonic dystrophy (DM) correlates with increasingly severe phenotypes. We designate its minimal amplification the 'protomutation' since it is the mutation itself at an early stage of intergenerational evolution and is associated with very mild...

Topics

Adult
Alleles
Child
DNA Mutational Analysis
Female
Gene Amplification
Gene Frequency
Humans
Male
Mutation
Myotonic Dystrophy
Pedigree
Phenotype
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

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