Cerebellar Ataxia, Infantile, with Progressive External Ophthalmoplegia &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; &nbs 424f54e p; 220
General: Autosomal recessive; neurologic lesion.
Ocular: Paralysis of all extraocular muscles; ptosis; retinal degeneration; blindness.
Clinical: Spinocerebellar degeneration; ataxia.
Jampel RS, et al. Ophthalmoplegia and retinal degeneration associated with spinocerebellar ataxia. Arch Ophthalmol 1961; 6:247-259.
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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