期刊
BRAIN & DEVELOPMENT
卷 36, 期 2, 页码 180-182出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2013.03.001
关键词
MELAS; Myopathy; m.3302A > G mutation
资金
- Ministry of Health, Labour and Welfare of Japan [21A-6]
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. (C) 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
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