Send to

Choose Destination
Rev Med Chil. 2000 Jul;128(7):772-7.

[Post exercise myalgias as presentation form of dystrophinopathy].

[Article in Spanish]

Author information

Servicio de Neuropsiquiatría Infantil, Hospital Clínico San Borja Arriarán.


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.

[Indexed for MEDLINE]

Supplemental Content

Loading ...
Support Center