Document Detail


Genetic analysis of a family of lactate dehydrogenase A subunit deficiency.
MedLine Citation:
PMID:  7647396     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Y Takahashi; H Miyajima; E Kaneko
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Internal medicine (Tokyo, Japan)     Volume:  34     ISSN:  0918-2918     ISO Abbreviation:  Intern. Med.     Publication Date:  1995 May 
Date Detail:
Created Date:  1995-09-26     Completed Date:  1995-09-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9204241     Medline TA:  Intern Med     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  326-9     Citation Subset:  IM    
Affiliation:
First Department of Medicine, Hamamatsu University School of Medicine, Shizuoka.
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MeSH Terms
Descriptor/Qualifier:
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:
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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