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Duplications of mitochondrial DNA in Kearns–Sayre syndrome

✍ Scribed by Dr. Joanna Poulton; Dr. Karl J. Morten; Dr. David Marchington; Dr. Katharin Weber; Dr. Garry K. Brown; Dr. Agnès Rötig; Dr. Laurence Bindoff


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
493 KB
Volume
18
Category
Article
ISSN
0148-639X

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📜 SIMILAR VOLUMES


High proportions of mtDNA duplications i
✍ 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 (⌬

MERRF and Kearns–Sayre overlap syndrome
✍ Valentina Emmanuele; David S. Silvers; Evangelia Sotiriou; Kurenai Tanji; Salvat 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 157 KB

## Abstract A 48‐year‐old man presented with a complex phenotype of myoclonus epilepsy with ragged‐red fibers (MERRF) syndrome and Kearns–Sayre syndrome (KSS), which included progressive myoclonus epilepsy, cerebellar ataxia, hearing loss, myopathic weakness, ophthalmoparesis, pigmentary retinopath