Genotype-phenotype correlation in myotonic dystrophy

Clinical Genetics
E Gharehbaghi-SchnellB R Binder

Abstract

Myotonic dystrophy (DM) is caused by a mutation in the length of a trinucleotide (CTG) repeat in the 3' untranslated region of the myotonin protein kinase gene located on chromosome 19q13.3. The normal gene has between 5 and 36 CTG trinucleotide repeats, whereas minimally affected individuals have 50 copies and severely affected DM-patients have several thousands of such repeats. Since no information on a genotype phenotype correlation in Austrian DM-patients is available, we examined a small group of these patients for the unstable trinucleotide repeat. Molecular analysis was used to clarify equivocal clinical diagnoses and confirm clinical findings. We studied eight DM-families, a total of 57 individuals, of whom 18 were diagnosed with a trinucleotide repeat expansion. Twenty-six unrelated individuals served as a control. Clinical assessment was based on the muscular disability rating scale (MDRS) and a sum of symptoms score (SSS). There was a significant correlation between the clinical scores (MDRS: Spearman r = 0.51; p = 0.029: SSS: Spearman r = 0.538; p = 0.0259) used and the size of the amplification of the trinucleotide repeat. The largest expansion found in our group of patients was 6 kb. Furthermore, we observed both ...Continue Reading

Citations

Feb 5, 2004·American Heart Journal·Deepak BhaktaWilliam J Groh
Mar 18, 2003·Journal of the Neurological Sciences·Manuel Seijo-MartínezCarmen Navarro
Nov 24, 2001·Brain Research Bulletin·G SicilianoL Murri
May 22, 2001·Clinical Genetics·J FinstererA Seiser
Sep 26, 2000·Human Molecular Genetics·J P MounseyJ R Moorman
Jul 13, 2012·Neurology·Chad HeatwoleRichard Moxley
Jan 1, 2005·Future Cardiology·Prakash C Viswanathan
Sep 25, 2002·European Journal of Pediatrics·Tim P KerrGraham S Clayden
Jan 1, 2008·Journal of the Japanese Physical Therapy Association = Rigaku Ryōhō·Shin KikuchiNobutada Tachi
Oct 12, 2010·Revue neurologique·L PrunaP Kaminsky
Aug 22, 2009·Magnetic Resonance Imaging·Francesca CaramiaGiovanni Antonini
Feb 10, 2007·La Presse médicale·Françoise BouhourChristophe Vial
May 6, 2014·Frontiers in Genetics·Susmita SinghShaochun Bai
Jul 31, 2013·Journal of Clinical Neurology·Kang Min ParkByoung Joon Kim
Jan 8, 2009·The Korean journal of laboratory medicine·So Yeon KimSung Sup Park
Sep 26, 2016·Revue neurologique·M De AntonioUNKNOWN French Myotonic Dystrophy Clinical Network
Jun 1, 2012·Proceedings of the National Academy of Sciences of the United States of America·Benjamin DehayErwan Bezard
Aug 12, 2014·Proceedings of the National Academy of Sciences of the United States of America·Mauro LongoniPatricia K Donahoe
Jul 13, 2019·Muscle & Nerve·Michael HunterNicholas E Johnson
Apr 1, 2011·Continuum : Lifelong Learning in Neurology·Robert H Baloh
Oct 4, 2006·Nature Reviews. Drug Discovery·Peter ImmingAchim Meyer
Jun 5, 2019·Orphanet Journal of Rare Diseases·Marie De AntonioGuillaume Bassez
May 8, 2018·Analytical and Bioanalytical Chemistry·Ioan O NeagaBertrand Blankert

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.