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Cited by 36Mitochondrial Function and PathologyGastrointestinal motility and disordersMetabolism and Genetic Disorders

Familial visceral myopathy associated with a mitochondrial myopathy

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Lowsky, R, Davidson, G, Wolman, S, Jeejeebhoy, K N, Hegele, R A·1993·Gut
DOI 10.1136/gut.34.2.279PMC PMC1373985
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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.

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  • Familial visceral myopathy, sometimes in association with mitochondrial myopathy, represents an important differential diagnosis for chronic intestinal pseudo-obstruction.

    “Familial visceral myopathy, sometimes in association with mitochondrial myopathy, represents an important differential diagnosis for chronic intestinal pseudo-obstruction (Lowsky et al., 1993).”

    From Autonomic nervous system and gastrointestinal manifestations with an emphasis on gastric dysfunction (2026) · cites this paper as Lowsky et al., 1993

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Research works printed but not linked: 26

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Cited by

Sorted by citations

Authors
Lowsky, R., Davidson, G., Wolman, S., Jeejeebhoy, K. N., & Hegele, R. A.
Affiliations
University of Toronto (CA)
ORCID
Venue
Gut
Publisher
BMJ
Published
1993-02
Volume
34
Issue
2
Pages
279-283
ISSN
  • 0017-5749 (ISSN-L)
  • 1468-3288
DOI
10.1136/gut.34.2.279
PMC
PMC1373985
OpenAlex
W2088019982
Cited by
36
References
1
Citations by year
2026: 1 · 2022: 1 · 2021: 2 · 2019: 1 · 2018: 1 · 2016: 1 · 2015: 2 · 2014: 2
FWCI
0.52
Type
journal article
Language
en
Open access
Locations
  • Gut (publishedVersion)
  • Europe PMC (PubMed Central) (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Health Sciences › Medicine › Gastroenterology › Gastrointestinal motility and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
mitochondrial myopathy, intestinal pseudo-obstruction, ophthalmoplegia, mitochondrial DNA mutations, familial inheritance
MeSH terms
Adult, Base Sequence, DNA, Mitochondrial, Duodenal Diseases, Duodenum, Humans, Intestinal Pseudo-Obstruction, Male, Molecular Sequence Data, Pedigree, Mitochondrial Myopathies

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