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Items: 5

1.
Stable Longitudinal Methylation Levels at the CpG Sites Flanking the CTG Repeat of DMPK in Patients with Myotonic Dystrophy Type 1
Mathis Hildonen, Kirsten Lykke Knak, Morten Dunø, John Vissing, Zeynep Tümer
Genes (Basel) 2020 Aug; 11(8): 936. Published online 2020 Aug 13. doi: 10.3390/genes11080936
PMCID:
PMC7465187
AbstractArticlePDF–2.4M
2.
Muscular dystrophies due to glycosylation defects
Francesco Muntoni, Silvia Torelli, Martin Brockington
Neurotherapeutics. 2008 Oct; 5(4): 627–632. Published online 2008 Oct 1. doi: 10.1016/j.nurt.2008.08.005
PMCID:
PMC4514705
AbstractArticlePDF–220K
3.
Influence of sex of the transmitting parent as well as of parental allele site on the CTG expansion in myotonic dystrophy (DM)
H. G. Brunner, H. T. Brüggenwirth, W. Nillesen, G. Jansen, B. C. J. Hamel, R. L. E. Hoppe, C. E. M. de Die, C. J. Höweler, B. A. van Oost, B. Wieringa, H. H. Ropers, H. J. M. Smeets
Am J Hum Genet. 1993 Nov; 53(5): 1016–1023.
PMCID:
PMC1682295
SummaryPage BrowsePDF–1.1M
4.
Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy.
J Poulton, H G Harley, J Dasmahapatra, G K Brown, C G Potter, B Sykes
J Med Genet. 1995 Sep; 32(9): 732–735. doi: 10.1136/jmg.32.9.732
PMCID:
PMC1051676
SummaryPage BrowsePDF–775K
5.
Specific molecular prenatal diagnosis for the CTG mutation in myotonic dystrophy.
J Myring, A L Meredith, H G Harley, G Kohn, G Norbury, P S Harper, D J Shaw
J Med Genet. 1992 Nov; 29(11): 785–788. doi: 10.1136/jmg.29.11.785
PMCID:
PMC1016171
SummaryPage BrowsePDF–873K

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