Molecular and Clinical Implications of Variant Repeats in Myotonic Dystrophy Type 1.
DMPK gene
age at onset
genetic modifier
myotonic dystrophy type 1
phenotype variability
repeat expansions
repeat interruptions
somatic mosaicism
variant repeats
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
29 Dec 2021
29 Dec 2021
Historique:
received:
10
11
2021
revised:
14
12
2021
accepted:
18
12
2021
entrez:
11
1
2022
pubmed:
12
1
2022
medline:
10
2
2022
Statut:
epublish
Résumé
Myotonic dystrophy type 1 (DM1) is one of the most variable monogenic diseases at phenotypic, genetic, and epigenetic level. The disease is multi-systemic with the age at onset ranging from birth to late age. The underlying mutation is an unstable expansion of CTG repeats in the
Identifiants
pubmed: 35008780
pii: ijms23010354
doi: 10.3390/ijms23010354
pmc: PMC8745394
pii:
doi:
Substances chimiques
Myotonin-Protein Kinase
EC 2.7.11.1
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : The Ministry of Education, Science and Technological Development of the Republic of Serbia
ID : 451-03-9/2021-14/200178
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