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)

The results are reported of single muscle fiber uptake of tritiated leucine in muscle biopsy material from Duchenne dystrophy and Charcot-Marie Tooth disease. The uptake in the two conditions is compared and suggests that the previously reported increase in synthesis of cytoplasmic proteins in muscular dystrophy are probably related to regenerative efforts by the muscle fibers.
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PMID:The incorporation of 3H (G) L-leucine into single muscle fibers in Duchenne dystrophy and Charcot-Marie Tooth disease. 26 56

The autoradiographic findings using tritiated leucine are described in muscle biopsy material from five patients with progressive muscular dystrophy (P.M.D.), three with motor neuron disease (M.N.D.) and four with Charcot-Marie-Tooth disease (C.M.T.). In progressive muscular dystrophy there is a marked increase in uptake of leucine into cytoplasmic proteins and precursors, and reduced incorporation into structural protein. In Charcot-Marie Tooth disease muscle there is a significantly increased uptake into cytoplasmic elements and a normal uptake into structural protein. In motor neuron disease the uptake into cytoplasmic elements appears normal but is reduced into structural proteins. The abnormal uptake in C.M.T. could be explained as a product of regenerative efforts associated with reinnervation. However, the abnormal uptake may represent the primary effects of gene action in the muscle, as seems probable in progressive muscular dystrophy.
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PMID:An autoradiographic study of muscular dystrophy, motor neuron disease and Charcot-Marie-Tooth disease. 83 61