Clinical and Genetic Heterogeneity in Progressive External Ophthalmoplegia Due to Mutations in Polymerase γ

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Abstract
PROGRESSIVE EXTERNAL ophthalmoplegia (PEO) with multiple mitochondrial DNA (mtDNA) deletions in muscle can be inherited as a dominant or a recessive trait.1,2 Clinical manifestations are heterogeneous and are usually more variable and severe in the recessive forms.2 Besides PEO, clinical features include deafness, cataracts, depression, dysphagia, hypogonadism, neuropathy, and sensory ataxia.3 Muscle biopsy results typically show ragged red fibers and cytochrome c oxidase–negative fibers.3

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