'Dystrophic' Lipid Myopathy in Two Sisters

James E. Carroll, Michael H. Brooke, Aida Villadiego, Beverly J. Norris, Jill I. Trefz

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

Two sisters with progressive myopathy demonstrated microscopic and biochemical evidence of lipid storage in skeletal muscle. Their muscle biopsy specimens resembled those seen in Duchenne's muscular dystrophy and some of the biochemical features were similar, including increased muscle concentration of long-chain acyl-coenzyme A (a fatty oxidation intermediate) and decreased oxidation of radioactively labeled fatty acids by muscle homogenates in vitro. Although the site of the defect was not localized, the data suggested impairment of intramitochondrial β-oxidation of fatty acids. These two patients may be important in understanding the pathogenesis of muscular dystrophy.

Original languageEnglish (US)
Pages (from-to)128-131
Number of pages4
JournalArchives of Neurology
Volume43
Issue number2
DOIs
StatePublished - Feb 1986
Externally publishedYes

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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  • Cite this

    Carroll, J. E., Brooke, M. H., Villadiego, A., Norris, B. J., & Trefz, J. I. (1986). 'Dystrophic' Lipid Myopathy in Two Sisters. Archives of Neurology, 43(2), 128-131. https://doi.org/10.1001/archneur.1986.00520020022010