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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…


Book ID
118785848
Publisher
Springer
Year
1999
Tongue
English
Weight
512 KB
Volume
105
Category
Article
ISSN
0340-6717

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✍ Fromenty, Bernard; Carrozzo, Rosalba; Shanske, Sara; Schon, Eric A. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 1 views

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 (⌬