Abstract
Electron micrographs of fibroblasts of an HHH-syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting in unusual structures.
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Metoki, K., Hommes, F.A., Dyken, P. et al. Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome. J Inherit Metab Dis 7, 147–150 (1984). https://doi.org/10.1007/BF01805595
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DOI: https://doi.org/10.1007/BF01805595