Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.7.11.11 (
AMPK
)
12,425
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease. The mutation has been identified as an unstable trinucleotide CTG repeat in a sequence encoding a putative
cAMP-dependent protein kinase
. The CTG repeat varies in length between affected siblings, and generally increases through generations in parallel with increasing severity of the disease.
Congenital myotonic dystrophy
, which represents the most severe phenotype, is exclusively maternally inherited. In this report, we show, by Northern blot analysis, that no mutated enlarged transcript is detectable in a 20-week-old DM fetus and in two congenitally affected infants. Furthermore, in skeletal and cardiac muscle of the DM fetus, we observed by RNA analysis, including Northern blot and RT-PCR, an unexpectedly low expression of the paternal wild type allele. Varying degrees of expression of the mutant and/or the normal allele might therefore account for the characteristic features of the congenital form and the extreme variability of the disease.
...
PMID:Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele. 769 46
