Identifier |
wh_ch22_p1112_2 |
Title |
Walsh & Hoyt: Single Deletions of mtDNA in Sporadic Opthalmoplegia |
Creator |
Paul H. Phillips, MD |
Affiliation |
University of Arkansas |
Subject |
Ocular Motor System; Extraocular Muscles; Myopathies; Muscular Dystrophy; Ion Channel Disorders; Mitochondrial Myopathies; Encephalomyopathy; Single Deletions of mtDNA; Sporadic Opthalmoplegia |
Description |
Most cases of CPEO and KSS are sporadic and associated with single deletions of mtDNA. Deleted mtDNAs appear to be distributed to a wider variety of tissues in KSS than CPEO, and duplications of mtDNA appear to be present in all cases of KSS but are absent in CPEO. Duplications of mtDNA are also found in patients with either diabetes mellitus or Pearsons syndrome, a mitochondrial disease characterized by infantile sideroblastic pancytopenia, insufficiency of the pancreas, and hepatic dysfunction. |
Date |
2005 |
Language |
eng |
Format |
application/pdf |
Type |
Text |
Source |
Walsh and Hoyt's Clinical Neuro-Ophthalmology, 6th Edition |
Relation is Part of |
Walsh and Hoyt's Clinical Neuro-Ophthalmology Walsh and Hoyt's Clinical Neuro-Ophthalmology |
Collection |
Neuro-Ophthalmology Virtual Education Library: Walsh and Hoyt Textbook Selections Collection: https://NOVEL.utah.edu |
Publisher |
Wolters Kluwer Health, Philadelphia |
Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
Rights Management |
Copyright 2005. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
ARK |
ark:/87278/s62z4f14 |
Setname |
ehsl_novel_whts |
ID |
186014 |
Reference URL |
https://collections.lib.utah.edu/ark:/87278/s62z4f14 |