The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS)

✍ Scribed by Ichizo Nishino; Mikio Komatsu; Soichi Kodama; Satoshi Horai; Ikuya Nonaka; Yu-Ichi Goto

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 248 KB
• Volume: 19
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/(sici)1097-4598(199612)19:12<1603::aid-mus10>3.0.co;2-s

✦ Synopsis

Maternally inherited myopathy and cardiomyopathy (MIMyCa) is one of the phenotypic subgroups of mitochondrial diseases. There are two reports of European families with MyMICa associated with an Ato-G transition at nucleotide (nt) 3260 in the mitochondrial tRNAkU(UUR)

We have identified the 3260 mutation in a Japanese family with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) accompanied by myoclonic epilepsy.

PATIENTS

The female proband had suffered from frequent episodes of headaches, vomiting, and loss of consciousness beginning at the age of 6 years. Electroencephalography during the attacks showed spike-and-wave complexeswith afocus in the right occipital area, and, initially, a diagnosis of complex partial seizure was made. At the age of 9 years, she began to experience attacks of myoclonic epilepsy occasionally accompanied by numbness of the left upper extremity and/or transient blindness in her left visual field. Scintillating