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

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

Full text
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872000000700010
Abstract
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 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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Discipline
Artes, Arquitectura y UrbanismoCiencias Agrarias, Forestales y VeterinariasCiencias Exactas y NaturalesCiencias SocialesDerechoEconomía y AdministraciónFilosofía y HumanidadesIngenieríaMedicinaMultidisciplinarias
Institutions
Universidad de ChileUniversidad Católica de ChileUniversidad de Santiago de ChileUniversidad de ConcepciónUniversidad Austral de ChileUniversidad Católica de ValparaísoUniversidad del Bio BioUniversidad de ValparaísoUniversidad Católica del Nortemore

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