Familial visceral myopathy associated with a mitochondrial myopathy.
case_report · Level V
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- Record sourced from PubMed, PMID 8432486.
- Also identified by PMC identifier 1373985.
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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.
Medical subject headings
- Duodenal Diseases
- Intestinal Pseudo-Obstruction
- Mitochondrial Myopathies