Post exercise myalgias as a form of dystrophynopathy.: Case report.

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dc.contributor.authorKleinsteuber, K
dc.contributor.authorRocco, P
dc.contributor.authorHerrera, L
dc.contributor.authorVainzof, M
dc.contributor.authorBirke, ME
dc.contributor.authorYáñez, M
dc.contributor.authorFlandes, A
dc.contributor.authorZatz, M
dc.contributor.authorCarvallo, PD
dc.contributor.authorAvaria, MD
dc.date.accessioned2025-01-21T01:31:17Z
dc.date.available2025-01-21T01:31:17Z
dc.date.issued2000
dc.description.abstractCramps 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 sever 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.
dc.fuente.origenWOS
dc.identifier.eissn0717-6163
dc.identifier.issn0034-9887
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/97030
dc.identifier.wosidWOS:000089001900010
dc.issue.numero7
dc.language.isoen
dc.pagina.final777
dc.pagina.inicio772
dc.revistaRevista medica de chile
dc.rightsacceso restringido
dc.subjectdystrophin
dc.subjectmolecular biology
dc.subjectmutation
dc.subjectmyalgia
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titlePost exercise myalgias as a form of dystrophynopathy.: Case report.
dc.typeartículo
dc.volumen128
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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