Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Pre...
Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
About this item
Full title
Author / Creator
Publisher
United States: Hindawi
Journal title
Language
English
Formats
Publication information
Publisher
United States: Hindawi
Subjects
More information
Scope and Contents
Contents
A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns–Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO)...
Alternative Titles
Full title
Kearns–Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8bb12e590c0c46be9b44c707371314f4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8bb12e590c0c46be9b44c707371314f4
Other Identifiers
ISSN
2090-6544
E-ISSN
2090-6552
DOI
10.1155/2022/4153357
