Page last updated: 2024-10-17

cytosine and Myotonic Dystrophy

cytosine has been researched along with Myotonic Dystrophy in 5 studies

Myotonic Dystrophy: Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2.

Research Excerpts

ExcerptRelevanceReference
"To assess whether the size of the cytosine-thymine-guanine (CTG) expansion mutation in myotonic dystrophy predicts progression of conduction system disease and cardiac events."7.71Does cytosine-thymine-guanine (CTG) expansion size predict cardiac events and electrocardiographic progression in myotonic dystrophy? ( Clarke, NR; Forfar, JC; Hilton-Jones, D; Kelion, AD; Nixon, J, 2001)
"An association is observed between the severity of myotonic dystrophy type 1 (DM1) and the genetic abnormality of cytosine-thymine-guanine (CTG) repeat expansion."3.77Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. ( Bodkin, CL; Groh, MR; Groh, WJ; Monckton, DG; Pascuzzi, RM; Shen, C, 2011)
"To assess whether the size of the cytosine-thymine-guanine (CTG) expansion mutation in myotonic dystrophy predicts progression of conduction system disease and cardiac events."3.71Does cytosine-thymine-guanine (CTG) expansion size predict cardiac events and electrocardiographic progression in myotonic dystrophy? ( Clarke, NR; Forfar, JC; Hilton-Jones, D; Kelion, AD; Nixon, J, 2001)
"Myotonic dystrophy is considered a true dominant condition with no difference in the phenotype between heterozygous and homozygous cases."1.35Homozygous myotonic dystrophy with craniosynostosis. ( Cerghet, M; Mahbubul Huq, AH; Serajee, FJ; Tapos, D, 2008)

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's3 (60.00)29.6817
2010's1 (20.00)24.3611
2020's1 (20.00)2.80

Authors

AuthorsStudies
Ballester-Lopez, A1
Koehorst, E1
Linares-Pardo, I1
Núñez-Manchón, J1
Almendrote, M1
Lucente, G1
Arbex, A1
Puente, C1
Lucia, A1
Monckton, DG2
Cumming, SA1
Pintos-Morell, G1
Coll-Cantí, J1
Ramos-Fransi, A1
Martínez-Piñeiro, A1
Nogales-Gadea, G1
Groh, WJ1
Groh, MR1
Shen, C1
Bodkin, CL1
Pascuzzi, RM1
Cerghet, M1
Tapos, D1
Serajee, FJ1
Mahbubul Huq, AH1
Sizhong, Z1
Hui, W1
Agen, P1
Cuiying, X1
Ge, Z1
Yiping, H1
Jiayou, C1
Clarke, NR1
Kelion, AD1
Nixon, J1
Hilton-Jones, D1
Forfar, JC1

Other Studies

5 other studies available for cytosine and Myotonic Dystrophy

ArticleYear
Preliminary Findings on CTG Expansion Determination in Different Tissues from Patients with Myotonic Dystrophy Type 1.
    Genes, 2020, 11-07, Volume: 11, Issue:11

    Topics: Adolescent; Adult; Alleles; Blood; Cytosine; Female; Genetic Variation; Guanine; Humans; Male; Middl

2020
Survival and CTG repeat expansion in adults with myotonic dystrophy type 1.
    Muscle & nerve, 2011, Volume: 43, Issue:5

    Topics: Adolescent; Adult; Aged; Cohort Studies; Cytosine; Female; Follow-Up Studies; Guanine; Humans; Male;

2011
Homozygous myotonic dystrophy with craniosynostosis.
    Journal of child neurology, 2008, Volume: 23, Issue:8

    Topics: Alleles; Brain; Child, Preschool; Cranial Sutures; Craniosynostoses; Cytosine; DNA Mutational Analys

2008
Low incidence of myotonic dystrophy in Chinese Hans is associated with a lower number of CTG trinucleotide repeats.
    American journal of medical genetics, 2000, Jun-12, Volume: 96, Issue:3

    Topics: Adult; Asian People; Chi-Square Distribution; China; Cytosine; Guanine; Humans; Incidence; Middle Ag

2000
Does cytosine-thymine-guanine (CTG) expansion size predict cardiac events and electrocardiographic progression in myotonic dystrophy?
    Heart (British Cardiac Society), 2001, Volume: 86, Issue:4

    Topics: Adult; Aged; Arrhythmias, Cardiac; Cytosine; Death, Sudden, Cardiac; Defibrillators, Implantable; Di

2001