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A unique 3.5-kb deletion of the mitochondrial genome in Thai patients with Kearns-Sayre syndrome

✍ Scribed by P. Lertrit; A. Imsumran; P. Karnkirawattana; V. Devahasdin; T. Sangruchi; L. Atchaneeyasakul; C. Mungkornkarn; N. Neungton

Publisher: Springer
Year: 1999
Tongue: English
Weight: 512 KB
Volume: 105
Category: Article
ISSN: 0340-6717
DOI: 10.1007/s004390051074

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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 (⌬