ArticleAmerican journal of human genetics2003
Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers.
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Who cites it
61 citing papers in PubMed, 139 citations in OpenAlex.
- Cultured myoblasts from patients affected by myotonic dystrophy type 2 exhibit senescence-related features: ultrastructural evidence.European journal of histochemistry : EJH · 2011Trial
- Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia.Arthritis and rheumatism · 2008Trial
- The novel (TCTG)Human genomics · 2026Article
- Antisense Oligonucleotide-Mediated Degradation of Toxic RNA in Myotonic Dystrophy Type 1.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Myotonic dystrophies: an update on clinical features, molecular mechanisms, management, and gene therapy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- Updated Structure ofNeurology. Genetics · 2025Article
- International collaboration to improve knowledge on myotonic dystrophy type 2.Journal of neuromuscular diseases · 2024Article
- Characterization of full-lengtheLife · 2022Article
- Myotonic Dystrophies: A Genetic Overview.Genes · 2022Review
- Review
- Characterisation of Non-Pathogenic Premutation-Range Myotonic Dystrophy Type 2 Alleles.Journal of clinical medicine · 2021Article
- A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and PremutatedFrontiers in genetics · 2021Article
- Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.Journal of neuromuscular diseases · 2021Article
- Myotonic dystrophy type 2: the 2020 update.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies.International journal of molecular sciences · 2020Review
- On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.The Journal of biological chemistry · 2020Review
- The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies.Journal of neuromuscular diseases · 2019Review
- Intron retention induced by microsatellite expansions as a disease biomarker.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy.Frontiers in neurology · 2018Review
- (CCUG)Disease models & mechanisms · 2017Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 15 institutions in 9 countries.
Funding
Abstract
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, is a clinically and genetically heterogeneous neuromuscular disorder. DM is characterized by autosomal dominant inheritance, muscular dystrophy, myotonia, and multisystem involvement. Type 1 DM (DM1) is caused by a (CTG)(n) expansion in the 3' untranslated region of DMPK in 19q13.3. Multiple families, predominantly of German descent and with clinically variable presentation that included proximal myotonic myopathy (PROMM) and type 2 DM (DM2) but without the DM1 mutation, showed linkage to the 3q21 region and were recently shown to segregate a (CCTG)(n) expansion mutation in intron 1 of ZNF9. Here, we present linkage to 3q21 and mutational confirmation in 17 kindreds of European origin with PROMM and proximal myotonic dystrophy, from geographically distinct populations. All patients have the DM2 (CCTG)(n) expansion. To study the evolution of this mutation, we constructed a comprehensive physical map of the DM2 region around ZNF9. High-resolution haplotype analysis of disease chromosomes with five microsatellite and 22 single-nucleotide polymorphism markers around the DM2 mutation identified extensive linkage disequilibrium and a single shared haplotype of at least 132 kb among patients from the different populations. With the exception of the (CCTG)(n) expansion, the available markers indicate that the DM2 haplotype is identical to the most common haplotype in normal individuals. This situation is reminiscent of that seen in DM1. Taken together, these data suggest a single founding mutation in DM2 patients of European origin. We estimate the age of the founding haplotype and of the DM2 (CCTG) expansion mutation to be approximately 200-540 generations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.