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Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

✍ Scribed by Dario Ronchi; Andreina Bordoni; Alessandra Cosi; Mafalda Rizzuti; Elisa Fassone; Alessio Di Fonzo; Maura Servida; Monica Sciacco; Martina Collotta; Marco Ronzoni; Valeria Lucchini; Marco Mattioli; Maurizio Moggio; Nereo Bresolin; Stefania Corti; Giacomo P. Comi

Book ID
116302152
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
615 KB
Volume
412
Category
Article
ISSN
0006-291X

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MERRF and Kearns–Sayre overlap syndrome
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✍ 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