Population-Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of Statewide Blood Screening Program.
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
16 02 2021
16 02 2021
Historique:
received:
31
07
2020
accepted:
12
10
2020
pubmed:
22
1
2021
medline:
3
3
2021
entrez:
21
1
2021
Statut:
ppublish
Résumé
To determine whether the genetic prevalence of the CTG expansion in the This study used a cross-sectional cohort of deidentified dried blood spots from the newborn screening program in the state of New York, taken from consecutive births from 2013 to 2014. Blood spots were screened for the CTG repeat expansion in the Of 50,382 consecutive births, there were 24 with a CTG repeat expansion ≥50, consistent with a diagnosis of DM1. This represents a significantly higher DM1 prevalence of 4.76 per 10,000 births (95% confidence interval 2.86-6.67) or 1 in every 2,100 births. There were an additional 96 samples (19.1 per 10,000 or 1 in 525 births) with a CTG expansion in the The prevalence of individuals with CTG repeat expansions in
Identifiants
pubmed: 33472919
pii: WNL.0000000000011425
doi: 10.1212/WNL.0000000000011425
pmc: PMC8055332
doi:
Substances chimiques
DMPK protein, human
0
Myotonin-Protein Kinase
EC 2.7.11.1
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1045-e1053Subventions
Organisme : NINDS NIH HHS
ID : K08 NS097631
Pays : United States
Organisme : NINDS NIH HHS
ID : K23 NS091511
Pays : United States
Organisme : NINDS NIH HHS
ID : R21 NS100040
Pays : United States
Informations de copyright
© 2021 American Academy of Neurology.
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