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Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report.

dc.creatorKleinsteuber S,Karin
dc.creatorRocco P,Paola
dc.creatorHerrera C,Luisa
dc.creatorVainzof,Mariz
dc.creatorBirke L,María Eliana
dc.creatorYáñez Z,Manuel
dc.creatorFlandes J,Ana
dc.creatorZatz,Mayana
dc.creatorCarvallo de SQ,Pilar
dc.creatorAvaria B,María de los Angeles
dc.date2000-07-01
dc.date.accessioned2019-09-10T12:39:20Z
dc.date.available2019-09-10T12:39:20Z
dc.identifierhttps://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700010
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/105141
dc.descriptionCramps and myalgias are frequent presentations of many disorders whose diagnosis is generally difficult. Among the unusual causes stand the milder phenotypes of dystrophinopathies, which are caused, just as Duchenne and Becker s dystrophy, by mutations in the dystrophin gene. An 8 year-old boy presented severe muscle pain on exercise and serum rise in creatine kinase over 1000 U/l. He had normal muscle power and mild calf hypertrophy. The molecular analysis by polymerase chain reaction (PCR) of the dystrophin gene showed deletions of exons 45 to 51. Dystrophin analysis by Western blot revealed a dystrophin of reduced quantity and molecular weight. Emphasis is made to include dystrophinopathies in the differential diagnosis of myalgias and the usefulness of molecular genetic techniques in the identification of these disorders (Rev Méd Chile 2000; 128: 772-7).
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dc.languagees
dc.publisherSociedad Médica de Santiago
dc.relation10.4067/S0034-98872000000700010
dc.rightsinfo:eu-repo/semantics/openAccess
dc.sourceRevista médica de Chile v.128 n.7 2000
dc.subjectDystrophin
dc.subjectMolecular biology
dc.subjectMutation
dc.subjectMyalgia
dc.titleMialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report.


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