RESUMO

We describe a family in which the mother has progressive external ophthalmoplegia with the common 4977 base pair deletion, and her son has a syndrome similar to the Pearson marrow-pancreas syndrome with the identical deletion. This case extends the clinical phenotype of the Pearson syndrome and raises the possibility that developmentally regulated tissue-specific nuclear factors are responsible for the differential phenotypic expression of these two mitochondrial disorders.

Assuntos

Anemia Sideroblástica/genética , DNA Mitocondrial/genética , Insuficiência Pancreática Exócrina/genética , Oftalmoplegia Externa Progressiva Crônica/genética , Deleção de Sequência/genética , Adulto , Composição de Bases/genética , Southern Blotting , Feminino , Humanos , Lactente , Masculino , Reação em Cadeia da Polimerase , Síndrome