Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two membrane-bound enzymes, concerned in repair of erythrocyte membranes, have been investigated in patients with muscular dystrophy. The activation of long-chain fatty acids is normal in erythrocytes from Duchenne patients, but increases two-fold in cells from myotonic dystrophy patients (congenital form). This alteration is not present in leucocytes. In all leucocytes tested palmitate was the preferred substrate while palmitoleate and linoleate were activated at a lower rate. In the erythrocytes the 3 fatty acids were activated at the same rate. Carnitine palmitoyltransferase was not significantly altered in erythrocytes of both groups of patients.
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PMID:Fatty acid activation and transfer in blood cells of patients with muscular dystrophy. 43 51