Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3076627 | Neurología Argentina | 2012 | 5 Pages |
Abstract
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.
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Authors
Andrés Berardo, Henry Rivera, Laura Pirra, Alberto Dubrovsky, Belén Bornstein, Miguel A. Martin,