MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA^Leu(UUR) gene

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• 作者：Masahide Goto ; Hirofumi Komaki ; Takashi Saito ; Yoshiaki Saito ; Eiji Nakagawa ; Kenji Sugai ; Masayuki Sasaki ; Ichizo Nishino ; Yu-ichi Goto
• 关键词：MELAS ; Myopathy ; m.3302A> ; G mutation
• 刊名：Brain and Development
• 出版年：February, 2014
• 年：2014
• 卷：36
• 期：2
• 页码：180-182
• 全文大小：317 K

文摘

The m.3302A>G mutation in the mitochondrial tRNA^Leu(UUR) gene has been identified in only 12 patients from 6 families, all manifesting adult-onset slowly progressive myopathy with minor central nervous system involvement. An 11-year-old boy presented with progressive proximal-dominant muscle weakness from age 7 years. At age 10, he developed recurrent stroke-like episodes. Mitochondrial myopathy, encephalopathy, lactic acidosis, plus stroke-like episodes (MELAS) was diagnosed by clinical symptoms and muscle biopsy findings. Mitochondrial gene analysis revealed a heteroplasmic m.3302A>G mutation. Histological examination showed strongly SDH reactive blood vessels (SSVs), not present in previous cases with myopathies due to the m.3302A>G mutation. These findings broaden the phenotypic spectrum of this mutation.