Myotonic Dystrophy Type 2
What's New
Last Posted: Aug 16, 2024
- 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
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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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