DMPK

From Ganfyd

Jump to: navigation, search
Web Resources for DMPK


Genetic Databases
GENE database on DMPK
Online Mendelian Inheritance in Man (OMIM) on DMPK
Pharmacogenomics Knowledge Base (pharmGKB) on DMPK
Catalogue Of Somatic Mutations In Cancer (COSMIC) on DMPK
Genome information (GenomeNet, KEGG) on DMPK
SNP database on DMPK
Protein Knowledgebase (UniProtKB) on DMPK
Relevant Clinical Literature
Pubmed on DMPK
RCT with DMPK
Systematic reviews of DMPK
DMPK in N Eng J Med, Lancet, JAMA, BMJ
DMPK in Cochrane Collaboration
TRIP Database on DMPK
Google Scholar on DMPK
Bandolier on DMPK
UK Guidance
NHS Evidence on DMPK
Centre for Reviews and Dissemination databases -DARE & NHS EED (evaluates reliability of research)
Nice Guidance on DMPK
Prodigy Guidance on DMPK
Other Wikis
Medpedia on DMPK (Less technical, good quality control)
Wikipedia on DMPK (Less technical, ? quality control)

The DMPK gene at 9q13.2-q13.3 causes myotonic dystrophy type I through diverse effects on nearby gene regulation if it has expanded CTG repeats (200-2000 plus) in the 3-prime untranslated region of the code for dystrophia myotonica protein kinase.

  • Normal 5 to 30 CTG repeats
  • ≥38 repeats usual cut off for disease
  • Mild 50 to 80 CTG repeats
  • Severe 2,000 or more CTG repeats
Retrieved from "http://www.ganfyd.org/index.php?title=DMPK"
Personal tools