Premutation allele pool in myotonic dystrophy type 2.

doi:10.1212/01.wnl.0000333665.01888.33

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Article

Premutation allele pool in myotonic dystrophy type 2.

Neurology - 10 Feb 2009

Bachinski L L, Czernuszewicz T, Ramagli L S, Suominen T, Shriver M D, Udd B, Siciliano M J, Krahe R

Abstract excerpt

BACKGROUND: The myotonic dystrophies (DM1, DM2) are the most common adult muscle diseases and are characterized by multisystem involvement. DM1 has been described in diverse populations, whereas DM2 seems to occur primarily in European Caucasians. Both are caused by the expression of expanded microsatellite repeats. In DM1, there is a reservoir of premutation alleles; however, there have been no reported...

Topics

Adult
Europe
Female
Gene Frequency
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Humans
Male
Myotonic Dystrophy
Polymorphism, Single Nucleotide
Repetitive Sequences, Nucleic Acid
United States

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Identifiers

PMID: 19020295
DOI: 10.1212/01.wnl.0000333665.01888.33
PMCID: PMC2677510

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