• 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.
Carroll JE, Brooke MH, Villadiego A, Norris BJ, Trefz JI. 'Dystrophic' Lipid Myopathy in Two Sisters. Arch Neurol. 1986;43(2):128–131. doi:10.1001/archneur.1986.00520020022010