Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
General: Autosomal recessive.
Ocular: Ptosis; external ophthalmoplegia.
Clinical: Involvement of cranial nerves and skeletal muscles; morphologic alterations of mitochondria; diffuse low-density deep cerebral white matter; weak limbs.
Okamoto T, et al. Ophthalmoplegia plus: its occurrence with periventricular diffuse low density on computed tonography scan. Arch Neurol 1981; 38:423-426.
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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