New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).

Nyckelord

Adult

Aged

Aged; 80 and over

Alleles

Biopsy/methods

Comparative Study

DNA Repeat Expansion/*genetics

Electrophoresis; Capillary/methods

Female

Humans

In Situ Hybridization; Fluorescence/methods

Indoles/metabolism

Linkage Disequilibrium

Male

Middle Aged

Molecular Diagnostic Techniques/*methods

Muscles/metabolism

Mutation

Myotonic Dystrophy/*diagnosis/*genetics

RNA; Messenger/biosynthesis

Research Support; Non-U.S. Gov't

Research Support; U.S. Gov't; P.H.S.

Reverse Transcriptase Polymerase Chain Reaction/methods

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)