Mitochondrial tRNA^Cys gene mutation (A5814G): a second family with mitochondrial encephalopathy

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• 作者：Santorelli ; Filippo M. ; Siciliano ; Gabriele ; Casali ; Carlo ; Basirico ; Matthew G. ; Carrozzo ; Rosalba ; et. al.
• 关键词：mtDNA ; Cysteine tRNA ; Encephalomyopathy
• 刊名：Neuromuscular Disorders
• 出版年：1997
• 期刊代码：203_09608966
• 类别：med
• 出版时间：May, 1997
• 卷：7
• 期：3
• 页码：156-159
• 文件大小：403 K

摘要

We report an Italian family with maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiological evidence of brainstem dysfunction. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 5814 in the tRNA gene for cysteine (A5814G), previously reported in a 5-year-old girl of Portuguese origin. The mutation was very abundant (>95%) in both muscle and blood from the proposita and was present in lower proportions (average 85 ± 6%) in blood from three less severely affected maternal relatives. This observation confirms pathogenicity for the A5814G mutation.