Identifier |
19920223_nanos_geneticsnosympos_06 |
Title |
CPEO, MERRF and Melas |
Creator |
Mark L. Moster |
Affiliation |
Philadelphia, PA |
Subject |
CPEO; MERRF; MELAS; Mitochondrial Encephalomyopathies; Chronic Progressive External Ophthalmoplegia; Myoclonic Epilepsy and Ragged Red Fibers; Mitochondrial Encephalomyopathy, Lactic Acidosis |
Description |
Mitochondrial Encephalomyopathies are a group of disorders with mitochondrial dysfunction affecting the central nervous system and skeletal muscle. These disorders also involve other systems such as retina, heart and peripheral nerve. They include disorders of infancy or early childhood, such as Alper's disease, Canavan's disease, Menke's disease and Leigh'sdiseaseasweli asagroup of disorders with apparently normal earlydevelopment followed by a progressive neurologic disorder. The latter group includes a myriad of case reports, each with its own clinical constellation. Within this group there are three relatively distinctive syndromes, chronic progressive external ophthalmoplegia (CPEO), including the Kearns-Sayre syndrome (KSS), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and myoclonic epilepsy with ragged red fibers (MERRF). Abnormalities in mitochrondrial DNA (mtDNA) have recently been demonstrated for these three diseases. |
Date |
1992-02-23 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
1992 North American Neuro-Ophthalmology Society Annual Meeting |
Relation is Part of |
NANOS 1992: Genetics in Neuro-Ophthalmology |
Collection |
Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/ |
Publisher |
North American Neuro-Ophthalmology Society |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 1992. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s6351s02 |
Context URL |
The NANOS Annual Meeting Neuro-Ophthalmology Collection: https://novel.utah.edu/collection/NAM/toc/ |
Setname |
ehsl_novel_nam |
ID |
182985 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6351s02 |