Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report.
Cramps 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 Beckers dystrophy, by mutations in the dystrophin gene. An 8 year-old boy prese...
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Sociedad Médica de Santiago
2000
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oai:scielo:S0034-988720000007000102000-09-01Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report.Kleinsteuber S,KarinRocco P,PaolaHerrera C,LuisaVainzof,MarizBirke L,María ElianaYáñez Z,ManuelFlandes J,AnaZatz,MayanaCarvallo de SQ,PilarAvaria B,María de los Angeles Dystrophin Molecular biology Mutation Myalgia Cramps 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 Beckers 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).info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.128 n.7 20002000-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700010es10.4067/S0034-98872000000700010 |
| institution |
Scielo Chile |
| collection |
Scielo Chile |
| language |
Spanish / Castilian |
| topic |
Dystrophin Molecular biology Mutation Myalgia |
| spellingShingle |
Dystrophin Molecular biology Mutation Myalgia Kleinsteuber S,Karin Rocco P,Paola Herrera C,Luisa Vainzof,Mariz Birke L,María Eliana Yáñez Z,Manuel Flandes J,Ana Zatz,Mayana Carvallo de SQ,Pilar Avaria B,María de los Angeles Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report. |
| description |
Cramps 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 Beckers 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). |
| author |
Kleinsteuber S,Karin Rocco P,Paola Herrera C,Luisa Vainzof,Mariz Birke L,María Eliana Yáñez Z,Manuel Flandes J,Ana Zatz,Mayana Carvallo de SQ,Pilar Avaria B,María de los Angeles |
| author_facet |
Kleinsteuber S,Karin Rocco P,Paola Herrera C,Luisa Vainzof,Mariz Birke L,María Eliana Yáñez Z,Manuel Flandes J,Ana Zatz,Mayana Carvallo de SQ,Pilar Avaria B,María de los Angeles |
| author_sort |
Kleinsteuber S,Karin |
| title |
Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report. |
| title_short |
Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report. |
| title_full |
Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report. |
| title_fullStr |
Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report. |
| title_full_unstemmed |
Mialgias post ejercicio como forma de presentación de una distrofinopatía.: Case report. |
| title_sort |
mialgias post ejercicio como forma de presentación de una distrofinopatía.: case report. |
| publisher |
Sociedad Médica de Santiago |
| publishDate |
2000 |
| url |
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700010 |
| work_keys_str_mv |
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