Heterogeneous phenotypes of mitochondrial encephalomyopathy in a single kindred
Ishitsu, T.; Miike, T.; Kitano, A.; Haraguchi, Y.; Ohtani, Y.; Matsuda, I.; Shimoji, A.; Kimura, H.
Neurology 37(12): 1867-1869
1987
ISSN/ISBN: 0028-3878 PMID: 3683878 Document Number: 295238
Five patients with mitochondrial disorders in a single family showed marked heterogeneity of clinical signs and symptoms. Two patients had the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; one had blepharoptosis, seizures, and diabetes insipidus; and two had a nonspecific encephalomyopathic disorder. This family supports the concept of "mitochondrial cytopathy.".
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