LIPID STORAGE MYOPATHY ASSOCIATED WITH LOW ACYL-COA DEHYDROGENASE ACTIVITIES
- 1 August 1988
- journal article
- research article
- Published by Oxford University Press (OUP) in Brain
- Vol. 111 (4) , 815-828
- https://doi.org/10.1093/brain/111.4.815
Abstract
A man with a painful proximal myopathy had excess lipid deposition in skeletal muscle, excretion of dicarboxylic acids in urine and low acyl-CoA dehydrogenase activities in skeletal muscle mitochondria. In addition he had little immunoreactive short-chain and medium-chain acyl-CoA dehydrogenase enzyme protein compared with normal controls. Following treatment with riboflavin there was considerable improvement in his clinical condition which was confirmed by further biochemical and morphological investigations.This publication has 16 references indexed in Scilit:
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