Abstract
The m.3302A>G mutation in the mitochondrial tRNALeu(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.
Keywords
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Article info
Publication history
Published online: April 12, 2013
Accepted:
March 13,
2013
Received in revised form:
January 31,
2013
Received:
March 26,
2012
Identification
Copyright
© 2013 The Japanese Society of Child Neurology. Published by Elsevier Inc. All rights reserved.
