Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

doi:10.1093/hmg/1.7.467

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Article

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.

Human molecular genetics - 1 Oct 1992

Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K

Abstract excerpt

Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat in a sequence encoding a cAMP-dependent protein kinase. The normal copy number of 5-35 repeats is exceeded in DM patients, with the size of the expansion broadly correlating with the severity...

Topics

Adult
DNA
Female
Humans
Male
Middle Aged
Myotonic Dystrophy
Pedigree
Phenotype
Polymerase Chain Reaction
Repetitive Sequences, Nucleic Acid

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