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Folate metabolism disorder in Kearns-Sayre syndrome

✍ Scribed by M. Dougados; J. Zittoun; D. Laplane; P. Castaigne

Publisher: John Wiley and Sons
Year: 1983
Tongue: English
Weight: 124 KB
Volume: 13
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410130624

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Kearns-Sayre syndrome (KSS) is a sporadic multisystem mitochondrial disorder characterized by progressive external ophthalmoplegia, pigmentary retinopathy, onset before age 20, and severe cardiac conduction defects that can lead to death. KSS patients harbor partial deletions of mitochondrial DNA (⌬