Myopathic form of very-long chain Acyl-CoA dehydrogenase deficiency: Evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl

Pediatric Research

Volumn 49, Issue 2, 2001, Pages 227-231

  Fukao, T ^a   Watanabe, H ^a   Orii, K E ^a   Takahashi, Y ^a   Hirano, A ^a   Kondo, T ^a   Yamaguchi, S ^a   Aoyama, T ^a   Kondo, N ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; COMPLEMENTARY DNA; CREATINE KINASE; PALMITOYL COENZYME A;

ADOLESCENT; ALLELISM; ARTICLE; CASE REPORT; FEMALE; GENE ACTIVITY; GENE EXPRESSION; GENE MUTATION; HETEROZYGOTE; HUMAN; JAPAN; MYALGIA; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; SYMPTOMATOLOGY; TEMPERATURE SENSITIVE MUTANT;

EID: 0035141152     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200102000-00016     Document Type: Article

References (20)

1. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. I. Purification and properties of very-long-chain acyl-coenzyme A dehydrogenase
2. Novel fatty acid β-oxidation enzymes in rat liver mitochondria. II. Purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein
3. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic consideration in 30 patients
4. Very-long chain acyl-coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria
5. Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency
6. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
7. Very-long-chain acyl-Coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria
8. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
9. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients
10. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood
11. Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis
12. Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene
13. Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: Identification and characterization of mutant VLCAD cDNAs from four patients
14. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychological outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency
15. Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsies: Application to medium-chain acyl-CoA dehydrogenase deficiency
16. Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients
17. Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase
18. Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: Identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
19. Efficient selection for high-expression transfectants with a novel eukaryotic vector
20. Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase