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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Myotonic muscular dystrophy is an autosomal dominant defect that produces muscle wasting, myotonia, and cardiac conduction abnormalities. The myotonic dystrophy locus codes for a putative serine-threonine protein kinase of unknown function. We report that overexpression of human myotonic dystrophy protein kinase induces the expression of skeletal muscle-specific genes in undifferentiated BC3H1 muscle cells. BC3H1 clones expressing myotonic dystrophy kinase appear equivalent to differentiated cells with respect to expression of myogenin, retinoblastoma tumor supressor gene, M creatine kinase, beta-tropomyosin, and vimentin. In addition, differential display analysis demonstrates that the pattern of gene expression exhibited by myotonic dystrophy kinase-expressing cells is essentially identical to that of differentiated BC3H1 muscle cells. These observations suggest that myotonic dystrophy kinase may function in the myogenic pathway.
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PMID:Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype. 855 Jun 17

Myotonic muscular dystrophy (DM) has been shown to be caused by the expansion of an unstable triplet nucleotide repeat sequence located in the 3' untranslated region of a gene coding for a putative serine-threonine protein kinase. Isolation of genomic and cDNA clones for the DM kinase have significantly simplified the genetic diagnosis of DM. The cellular localization, enzymatic activity, and role in the pathophysiology of DM of the kinase protein are as yet unknown.
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PMID:Molecular genetics of myotonic dystrophy. 2124 44