Abstract
A 27 year old man with intestinal pseudo-obstruction who developed parenteral nutrition induced hyperlipidaemia and who also had ophthalmoplegia and an undifferentiated myopathy is described. Histological examination of biopsy specimens and molecular analysis show that this patient had both familial visceral myopathy and a mitochondrial myopathy, suggesting that a mitochondrial DNA mutation is the molecular lesion in familial visceral myopathy.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Base Sequence
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DNA, Mitochondrial / analysis
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Duodenal Diseases / complications
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Duodenal Diseases / genetics*
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Duodenal Diseases / pathology
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Duodenum / ultrastructure
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Humans
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Intestinal Pseudo-Obstruction / complications
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Intestinal Pseudo-Obstruction / genetics*
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Intestinal Pseudo-Obstruction / pathology
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Male
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Mitochondrial Myopathies / complications
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Mitochondrial Myopathies / genetics*
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Mitochondrial Myopathies / pathology
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Molecular Sequence Data
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Pedigree