Myopathy, Mitochondrial, with Cataract 414i86e 414i86e 414i86e 414i86e
General: Autosomal dominant.
Ocular: Early-onset bilateral cataracts; severe ophthalmoplegia; mitochondrial abnormalities in the inferior oblique muscle.
Clinical: Facial weakness; myocardial and skeletal myopathy of the mitochondrial type.
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/.
Pepin B, et al. Familial mitochondrial myopathy with cataract. J Neurol Sci 1980; 45: 191-203.
MELAS Syndrome 7 [...] |
Hypocalcemia [...] |
Cataract, Membranous &nbs [...] |
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