MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation

✍ Scribed by Valentina Emmanuele; David S. Silvers; Evangelia Sotiriou; Kurenai Tanji; Salvatore DiMAURO; Michio Hirano

• Publisher: John Wiley and Sons
• Year: 2011
• Tongue: English
• Weight: 157 KB
• Volume: 44
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/mus.22149

✦ Synopsis

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 retinopathy, bifascicular heart block, and ragged‐red fibers. The m.3291T>C mutation in the tRNA^Leu(UUR)^ gene was found with 92% heteroplasmy in muscle. This mutation has been reported with MELAS, myopathy, and deafness with cognitive impairment. This is the first description with a MERRF/KSS syndrome. Muscle Nerve 44: 448–451, 2011