Journal
BRAIN & DEVELOPMENT
Volume 36, Issue 2, Pages 180-182Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.braindev.2013.03.001
Keywords
MELAS; Myopathy; m.3302A > G mutation
Categories
Funding
- Ministry of Health, Labour and Welfare of Japan [21A-6]
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available