| Genetic analysis of a family of lactate dehydrogenase A subunit deficiency. | |
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MedLine Citation:
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PMID: 7647396 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Y Takahashi; H Miyajima; E Kaneko |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Internal medicine (Tokyo, Japan) Volume: 34 ISSN: 0918-2918 ISO Abbreviation: Intern. Med. Publication Date: 1995 May |
Date Detail:
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Created Date: 1995-09-26 Completed Date: 1995-09-26 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9204241 Medline TA: Intern Med Country: JAPAN |
Other Details:
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Languages: eng Pagination: 326-9 Citation Subset: IM |
Affiliation:
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First Department of Medicine, Hamamatsu University School of Medicine, Shizuoka. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Base Sequence Exons Gene Deletion Glycolysis / genetics Humans Isoenzymes L-Lactate Dehydrogenase / deficiency*, genetics Male Metabolism, Inborn Errors / diagnosis, enzymology*, genetics Molecular Sequence Data Nuclear Family Pedigree Polymerase Chain Reaction Transcription, Genetic |
| Chemical | |
Reg. No./Substance:
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0/Isoenzymes; EC 1.1.1.27/L-Lactate Dehydrogenase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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