Familial visceral myopathy associated with a mitochondrial myopathy
| Autor: | S Wolman, R Lowsky, R A Hegele, K N Jeejeebhoy, G Davidson |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Male Pathology medicine.medical_specialty Mitochondrial DNA Duodenum Molecular Sequence Data Biology DNA Mitochondrial Mitochondrial myopathy Biopsy medicine Humans Duodenal Diseases Myopathy Molecular lesion Base Sequence medicine.diagnostic_test Intestinal Pseudo-Obstruction Gastroenterology Mitochondrial Myopathies medicine.disease Pathophysiology Pedigree Parenteral nutrition Familial visceral myopathy medicine.symptom Research Article |
| Zdroj: | Gut. 34:279-283 |
| ISSN: | 0017-5749 |
| DOI: | 10.1136/gut.34.2.279 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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