Ophthalmoplegia, Progressive External, with Ragged Red Fibers
General: Autosomal dominant.
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/.
Freeman-Sheldon Syndrome (Cranio-Carpo-Tarsal Dysplasia; Whistling Face Syndrome) 4 General: Rare; autosomal dominant and recessiv [...] |
Hajdu-Cheney Syndrome [...] |
Nonne-Milroy-Meige Disease (Chronic Hereditary Lymphedema; Milroy Disease; Meige Disease; Meige-Milroy Syndrome; Nonne-Milroy Syndrome; Chronic Her [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
