Article
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 - 1 Feb 2001
Fukao T, Watanabe H, Orii K, Takahashi Y, Hirano A, Kondo T, Yamaguchi S, Aoyama T, Kondo N
Abstract excerpt
In a 14-year-old Japanese girl, manifested recurrent myalgia with elevated serum creatine kinase after moderate exercise became evident, and she was diagnosed as having a myopathic form of very-long chain acyl-CoA dehydrogenase deficiency. Her first clinical symptom of the disease was evident when she was 6 y of age. She had never had hypoglycemic attacks, and hepatomegaly and cardiomyopathy were absent. The...
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