Myotonic Dystrophy Type 1
What's New
Last Posted: May 30, 2024
- Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Sanne P Smeekens et al. Prenat Diagn 2024 - Diagnosis and Management of Myotonic Dystrophy Type 1
J Hartman et al, JAMA March 11, 2024 - 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 - Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.
van As Daniël et al. Journal of neuromuscular diseases 2021 - Population Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of State-wide Blood Screening Program.
Johnson Nicholas E et al. Neurology 2021 Jan - Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.
Joosten Isis B T et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 Nov - The impact of parental unaffected allele combination on the diagnostic outcome in the preimplantation genetic testing for myotonic dystrophy type 1 in Japanese ancestry.
Senba Hiroshi et al. Reproductive medicine and biology 2020 Jul 19(3) 265-269 - Recent advances in molecular therapies for neurological disease: triplet repeat disorders.
Gonzalez-Alegre Pedro et al. Human molecular genetics 2019 28(R1) R80-R87 - Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy.
McNally Elizabeth M et al. Journal of the American Heart Association 2020 Feb 9(4) e014006 - [Current status of the predictive genetic testing for hereditary neurological diseases in Shinshu University Hospital].
Tanaka Keiko et al. Rinsho shinkeigaku = Clinical neurology 2013 53(3) 196-204
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Content Summary
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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