Department of Neurology, Columbia University Medical Center, 630 West 168th Street, P&S 4-423, New York, New York 10032, USA.
Muscle Nerve. 2011 Sep;44(3):448-51. doi: 10.1002/mus.22149.
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.
一位 48 岁男性表现出肌阵挛性癫痫伴破碎红纤维(MERRF)综合征和 Kearns-Sayre 综合征(KSS)的复杂表型,包括进行性肌阵挛性癫痫、小脑性共济失调、听力损失、肌病性无力、眼肌麻痹、色素性视网膜炎、双束支传导阻滞和破碎红纤维。在肌肉中发现了 tRNA(Leu(UUR))基因中的 m.3291T>C 突变,异质性为 92%。该突变已在 MELAS、肌病和伴有认知障碍的耳聋中报道过。这是首例 MERRF/KSS 综合征的描述。