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Last Posted: Sep 12, 2024

• Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis.
  Carlos Pascual-Morena, et al. Pediatric neurology 2024 0 9-17
• Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy.
  Wiktoria Radziwonik-Fr?czyk, et al. Postepy psychiatrii neurologii 2024 0 (2) 109-114
• Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
  Wiktoria Radziwonik-Fraczyk, et al. Neurogenetics 2024 0
• Diagnosis and Management of Myotonic Dystrophy Type 1
  J Hartman et al, JAMA March 11, 2024
• Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation.
  J P Sánchez Marín, et al. Neurologia 2023 0
• Origin of the myotonic dystrophy type 1 mutation in Mexican population and influence of Amerindian ancestry on CTG repeat allelic distribution.
  Murillo-Melo N M, et al. Neuromuscular disorders : NMD 2017 0 (12) 1106-1114
• Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1.
  Corrales Eyleen, et al. PloS one 2019 0 (5) e0216407
• MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1.
  Flower Michael, et al. Brain : a journal of neurology 2019 0 (7) 1876-86
• Longitudinal increases in somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 are associated with variation in age-at-onset.
  Morales Fernando, et al. Human molecular genetics 2020 0 (15) 2496-2507
• Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations.
  Joosten Isis B T, et al. European journal of human genetics : EJHG 2020 0 (7) 956-962
• Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration.
  Jimenez-Marin Antonio, et al. Neuropathology and applied neurobiology 2021 0 (7) 1092-1108
• Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye.
  Smits Bart W, et al. Neuromuscular disorders : NMD 2011 0 (4) 272-8
• Dutch myotonic dystrophy type 2 patients and a North-African DM2 family carry the common European founder haplotype.
  Coenen Marieke J H, et al. European journal of human genetics : EJHG 2011 0 (5) 567-70
• Proximal myotonic myopathy: a syndrome with a favourable prognosis?
  Meola Giovanni, et al. Journal of the neurological sciences 2002 0 (2) 89-96
• Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.
  Alfano Massimiliano et al. eLife 2022 11
• Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.
  Damen M J, et al. Journal of neuromuscular diseases 2021 5
• Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1.
  Kim Hyeong Jung, et al. Korean journal of pediatrics 2018 9
• Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1.
  Winkler Nelson S, et al. Investigative ophthalmology & visual science 2018 6 (7) 3053-3057
• Fuchs' Endothelial Corneal Dystrophy and RNA Foci in Patients With Myotonic Dystrophy.
  Mootha V Vinod, et al. Investigative ophthalmology & visual science 2017 9 (11) 4579-4585
• A polymorphism in the MSH3 mismatch repair gene is associated with the levels of somatic instability of the expanded CTG repeat in the blood DNA of myotonic dystrophy type 1 patients.
  Morales Fernando, et al. DNA repair 2016 3 57-66
• Haplotype analysis and LD detection at DM1 locus.
  Kumar Ashok, et al. Gene 2015 8 (1) 45-50
• Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease.
  Higham Catherine F, et al. Journal of the Royal Society, Interface / the Royal Society 2013 11 (88) 20130605
• MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.
  Huin V, et al. Journal of neurology 2012 11
• Myotonic dystrophy type 1
  From NCATS Genetic and Rare Diseases Information Center
• Myotonic dystrophy type 2
  From NCATS Genetic and Rare Diseases Information Center
• Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2).
  Catalli Claudio, et al. The Journal of molecular diagnostics : JMD 2010 9 (5) 601-6
• Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in the Korean population.
  Kwon Min-Jung, et al. Annals of clinical and laboratory science 2010 0 (2) 156-62
• Myotonic dystrophy type 1 and PGD: ovarian stimulation response and correlation analysis between ovarian reserve and genotype.
  Dechanet C, et al. Reproductive biomedicine online 2010 5 (5) 610-8
• Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients.
  Rinaldi F, et al. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases 2008 12 82-9
• Molecular and clinical characteristics of myotonic dystrophy type 1 in koreans.
  Kim So Yeon, et al. The Korean journal of laboratory medicine 2008 12 (6) 483-92
• Myotonic dystrophy type 2 found in two of sixty-three persons diagnosed as having fibromyalgia.
  Auvinen Satu, et al. Arthritis and rheumatism 2008 11 (11) 3627-31
• High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
  Suominen T, et al. Journal of neurology 2008 11 (11) 1731-6
• CTG expansion & haplotype analysis in DM1 gene in healthy Iranian population.
  Shojasaffar Bahareh, et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2008 5 (2) 216-9
• Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions.
  Arsenault M-E, et al. Neurology 2006 4 (8) 1248-50
• The correlation of CTG repeat length with material and social deprivation in myotonic dystrophy.
  Laberge L, et al. Clinical genetics 2007 1 (1) 59-66
• [Myotonic dystrophy type 1 in cataract patients: molecular diagnosis for screening and genetic counseling].
  Rojas María Verónica Muñoz, et al. Arquivos brasileiros de oftalmologia 0 0 (1) 15-20
• Characterization of a single nucleotide polymorphism in the ZNF9 gene and analysis of association with myotonic dystrophy type II (DM2) in the Italian population.
  Vallo L, et al. Molecular and cellular probes 2005 2 (1) 71-4
• No association of the SCA1 (CAG)31 allele with Huntington's disease, myotonic dystrophy type 1 and spinocerebellar ataxia type 3.
  Hellenbroich Yorck, et al. Psychiatric genetics 2004 6 (2) 61-3
• Heart rate variability declines with increasing age and CTG repeat length in patients with myotonic dystrophy type 1.
  Hardin Bradley A, et al. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 2003 7 (3) 227-32
• Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1.
  Logigian EL, et al. Neurology 2004 4 (7) 1081-9

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