Myotonic Dystrophy Type 2
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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
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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