Nueva mutación en C10Orf2 (PEO1) en paciente con oftalmoplejía crónica progresiva mitocondrial dominante (adCPEO), primer caso argentino

Mutations in C10Orf2 (PEO1) should be considered a frequent cause of adCPEO as well as POLG, POLG2, ANT1 and eventual OPA1. CPEO associated with mutations in PEO1 cause a mild phenotype, usually without multisystem involvement. In the appropriate clinical context, genetic studies can avoid invasive interventions like a muscle biopsy and give an appropriate diagnosis. Genetic characterization of these disorders can offer a proper genetic counseling along with a relative prognosis of the disease.