Abstract

MATTOS NAVARRO, Pablo et al. Congenital myopathy of central cores. Rev. bol. ped. [online]. 2008, vol.47, n.3, pp.160-162. ISSN 1024-0675.

Congenital myopathies are inherited diseases, usually with a benign course. They present with different phenotypes that renders the diagnosis more difficult. We present the case of a 1 year and 2 months old child, admitted to hospital with progressive shortness of breath, hypotonia and developmental delay, compatible with central core myopathy. Early detection of this condition is very useful in order to improve the patient's quality of life as well as to provide appropriate genetic counseling to parents. We present guidelines that may help with the diagnosis.

Keywords : myopathy; congenital; hereditary; central core myopathy.

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