Ophthalmoplegia, progressive external

General: Autosomal recessive; progressive limitation of ocular motility 929f57j with clinical sparing of pupillary function; underlying pathogenesis is secondary to a mitochondrial cytopathy; appearance of ragged red fibers in the abnormal muscles is primarily caused by mitochondrial accumulations beneath the plasma membrane and between the myofibrils.

Ocular: Oculopharyngeal muscular dystrophy; retinitis pigmentosa; progressive external ophthalmoplegia; some patients show only ptosis and ophthalmoplegia; most patients have multisystem involvement.

Clinical: Heart block; ataxia.

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McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Miller NR, ed. Walsh and Hoyt's Clinical Neuro-Ophthalmology, vol. 2, 4th ed. Baltimore: Williams & Wilkins, 1985:817.

Seibel P, et al. Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene. Biochem Biophys Res Commun 1994; 204:482-489.