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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 inherited disorder affecting many organs, though the underlying biochemical defect is unknown. A recent publication [1] suggested that the metabolic lesion may be associated with defective phospholipid metabolism. These workers observed impaired calcium-stimulated phosphatidic acid accumulation in red cell ghosts from individuals with myotonic dystrophy compared with normal controls. The present study investigated some points of calcium-activated phosphatidylinositol metabolism in red cell ghosts from patients with myotonic dystrophy, those at risk of developing the disease and normal individuals. No differences between the three groups could be found in the incorporation of 32P into endogenous phosphatidylinositol nor in the distribution of label between the various phosphatidylinositols. Additionally, no differences were observed in either basal or calcium-activated phosphatidylinositol phosphate breakdown by phosphodiesterase. This would suggest that the observed decreased phosphatidate accumulation [1] may be due to impaired diacylglycerol kinase activity.
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PMID:In vitro studies on calcium activated phosphatidylinositol phosphodiesterase of erythrocyte ghosts from normal individuals and those with myotonic muscular dystrophy. 627 36