Ophthalmoplegia, Progressive External, with Ragged Red Fibers
General: Autosomal dominant. 717g64h
Ocular: Progressive ophthalmoplegia.
Clinical: Ragged red fibers in skeletal muscle from the extremities; subsarcolemmal clusters of mitochondria containing paracrystalline inclusions.
Iannoccone ST, et al. Familial progressive external ophthalmoplegia and ragged-red fibers. Neurology 1974; 24: 1033-l038.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th 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/.
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