Variation of CTG-repeat number of the DMPK gene in muscle tissue.

doi:10.1016/s0960-8966(97)00443-4

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Article

Variation of CTG-repeat number of the DMPK gene in muscle tissue.

Neuromuscular disorders : NMD - 1 May 1997

Ansved T, Edström L, Grandell U, Hedberg B, Anvret M

Abstract excerpt

Myotonic dystrophy (DM) is associated with an unstable expansion of CTG repeats located in the 3' untranslated region of a protein kinase-encoding gene (DMPK) on chromosome 19 (19q13.3). The CTG repeat number varies between 5 and 37 in lymphocytes of normal individuals, whereas DM patients may ha...

Topics

Alleles
Base Sequence
Biopsy
Humans
Muscle, Skeletal
Myotonic Dystrophy
Myotonin-Protein Kinase
Polymerase Chain Reaction
Protein Serine-Threonine Kinases
Repetitive Sequences, Nucleic Acid

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