Genetic Analysis of a Family of Lactate Dehydrogenase A Subunit Deficiency
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概要
- 論文の詳細を見る
Lactate dehydrogenase A subunit (LDH-A) deficiency is an inherited metabolic myopathy of glycolysis. The severity of this disease varies from case to case. We reported non-consanguineous male sibling cases who had severe muscle pain and rhabdomyolysis during anaerobic exercise. Genetic analysis revealed 20 base pair deletion of the sixth exon of the LDH-A gene. There was no difference in the gene abnormality between our patients and previously reported female cases who had history of consanguinity and lower degree of symptoms. The differences in disease severity were not due to genomic abnormality in our two families.(Internal Medicine 34: 326-329, 1995)
- 社団法人 日本内科学会の論文
著者
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MIYAJIMA Hiroaki
the First Department of Medicine, Hamamatsu University School of Medicine
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TAKAHASHI Yoshitomo
the First Department of Medicine, Hamamatsu University School of Medicine
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Miyajima Hiroaki
The First Department Of Medicine Hamamatsu University School Of Medicine
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Kaneko Eizo
The First Department Of Medicine Hamamatsu University School Of Medicine
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Takahashi Yoshitomo
The First Department Of Medicine Hamamatsu University School Of Medicine
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