Revista médica de Chile
versão impressa ISSN 0034-9887
KLEINSTEUBER S, Karin et al. Post exercise myalgias as a form of dystrophynopathy.. Rev. méd. Chile [online]. 2000, vol.128, n.7, pp. 772-777. ISSN 0034-9887. doi: 10.4067/S0034-98872000000700010.
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).
Palavras-chave : Dystrophin; Molecular biology; Mutation; Myalgia.