Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report a case of progressive ophthalmoplegia associated with asymptomatic primary biliary cirrhosis diagnosed by the finding of antimitochondrial antibodies and liver biopsy. Electron microscopic findings showed mitochondrial abnormalities, especially intramitochondrial paracrystalline inclusions, not only in skeletal muscle but also in hepatocytes. Enzymatic digestion revealed the acidic protein nature of the intramitochondrial paracrystalline inclusions of the hepatocyte. To the authors' best knowledge, the association of progressive ophthalmoplegia and primary biliary cirrhosis has not yet been reported in the literature. Despite the mitochondrial abnormalities in both skeletal muscle and liver and the presence of serum antimitochondrial antibodies, no apparent connection between these two diseases was found.
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PMID:Progressive ophthalmoplegia associated with asymptomatic primary biliary cirrhosis. Histologic, histochemical, cytochemical, and ultrastructural studies of muscle and liver biopsy specimens. 742 4