Familial visceral myopathy associated with a mitochondrial myopathy

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...

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Bibliographic Details
Published in:Gut 1993-02, Vol.34 (2), p.279-283
Main Authors: Lowsky, R, Davidson, G, Wolman, S, Jeejeebhoy, K N, Hegele, R A
Format: Article
Language:English
Subjects:
Adult
Base Sequence
Biological and medical sciences
Complex syndromes
DNA, Mitochondrial - analysis
Duodenal Diseases - complications
Duodenal Diseases - genetics
Duodenal Diseases - pathology
Duodenum - ultrastructure
Humans
Intestinal Pseudo-Obstruction - complications
Intestinal Pseudo-Obstruction - genetics
Intestinal Pseudo-Obstruction - pathology
Male
Medical genetics
Medical sciences
Mitochondrial Myopathies - complications
Mitochondrial Myopathies - genetics
Mitochondrial Myopathies - pathology
Molecular Sequence Data
Pedigree
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Description
Summary: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.
ISSN:0017-5749
1468-3288
1458-3288
DOI:10.1136/gut.34.2.279