Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

doi:10.1038/355545a0

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Article

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Nature - 6 Feb 1992

Harley H G, Brook J D, Rundle S A, Crow S, Reardon W, Buckler A J, Harper P S, Housman D E, Shaw D J

Abstract excerpt

Myotonic dystrophy is the commonest adult form of muscular dystrophy, with an estimated incidence of 1 per 7,500, although this is likely to be an underestimate because of the difficulty of detecting minimally affected individuals. It is a multisystem autosomal dominant disorder of unknown bioche...

Topics

Blotting, Southern
Chromosomes, Human, Pair 19
Female
Genetic Markers
Humans
Male
Mutation
Myotonic Dystrophy
Pedigree
Phenotype
Polymorphism, Restriction Fragment Length
Restriction Mapping

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