Abstract
Eight patients with mitochondrial cytopathy are discussed. This presentation documents the occurrence of the disease 1n Chinese as well as exemplifies many of the recognised syndromes. Two patients presented with myoclonus epilepsy associated with ragged red fibres (MERRF), one with mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS), one with external ophthalmoplegia, retinitis pigmentosa and congenital heart block (Kearns Sayre Syndrome) and four patients with less well-defined syndromes. The diagnosis 1s essentially a pathological one» established by muscle biopsy examination 1n an appropriate clinical setting. Ragged red fibres and intramitochondrial paracrystalline inclusions are found each case. The clinical heterogeneity of mitochondrial cytopathy 1n the presence of identical pathological changes in skeletal muscle 1s emphasized.
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