Article ID Journal Published Year Pages File Type
3076627 Neurología Argentina 2012 5 Pages PDF
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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Life Sciences Neuroscience Neurology
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