PMID: 9185177May 1, 1997Paper

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

Neuromuscular Disorders : NMD
T AnsvedM Anvret

Abstract

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 have expansions from 50 to several thousand copies. Although the CTG expansions related to myotonic dystrophy (DM) are usually larger in muscle compared to peripheral blood, the variation in repeat number in non-dystrophic muscle is not known. In order to investigate if there is a variation, the CTG-repeat number was determined in percutaneous muscle biopsies obtained from 86 individuals without any muscle disorder or with a neuromuscular disorder without any clinical or histopathological signs of DM. The number of CTG repeats varied between 5 and 28, this being within the normal range reported for peripheral blood. A major sharp peak at n = 5 (27%) and a broader peak at n = 8-17 (56%) with peak values at n = 12 and 14 (11 and 14%, respectively) were observed. Alleles with 19 or more repeats amounted to 17% with a small peak at n = 20 and 21 (6 and 4%, respectively). It is concluded that the normal variation of CTG-repeat number in skelet...Continue Reading

References

Nov 1, 1992·Journal of Medical Genetics·H G BrunnerH J Smeets
May 18, 1992·Science·C T CaskeyD L Nelson
Jun 1, 1995·Nature Genetics·G D HurstJ A Barrett
Feb 1, 1994·Nature Genetics·N CareyE Robertson
Dec 1, 1993·Neurology·T AshizawaY Harati
May 1, 1993·Nature Genetics·G ImbertJ L Mandel

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Citations

Jul 31, 2009·Cancer Causes & Control : CCC·Christine M MuellerMark H Greene
Mar 1, 2012·Proceedings of the National Academy of Sciences of the United States of America·Johanna E LeeThomas A Cooper
Nov 4, 2010·Human Molecular Genetics·Arturo López CastelChristopher E Pearson
Mar 15, 2000·Muscle & Nerve·L S KrivickasW R Frontera

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