Literature DB >> 8432486

Familial visceral myopathy associated with a mitochondrial myopathy.

R Lowsky1, G Davidson, S Wolman, K N Jeejeebhoy, R A Hegele.   

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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Year:  1993        PMID： 8432486      PMCID： PMC1373985          DOI： 10.1136/gut.34.2.279

Source DB:  PubMed          Journal:  Gut        ISSN： 0017-5749            Impact factor:   23.059


  23 in total

1.  Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder.

Authors:  A Bardosi; W Creutzfeldt; S DiMauro; K Felgenhauer; R L Friede; H H Goebel; A Kohlschütter; G Mayer; G Rahlf; S Servidei
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

2.  Paternal inheritance of mitochondrial DNA in mice.

Authors:  U Gyllensten; D Wharton; A Josefsson; A C Wilson
Journal:  Nature       Date:  1991-07-18       Impact factor: 49.962

3.  Studies of idiopathic intestinal pseudoobstruction. II. Hereditary hollow visceral myopathy: family studies.

Authors:  M D Schuffler; C E Pope
Journal:  Gastroenterology       Date:  1977-08       Impact factor: 22.682

4.  Sequence and organization of the human mitochondrial genome.

Authors:  S Anderson; A T Bankier; B G Barrell; M H de Bruijn; A R Coulson; J Drouin; I C Eperon; D P Nierlich; B A Roe; F Sanger; P H Schreier; A J Smith; R Staden; I G Young
Journal:  Nature       Date:  1981-04-09       Impact factor: 49.962

5.  Apolipoprotein B-gene DNA polymorphisms associated with myocardial infarction.

Authors:  R A Hegele; L S Huang; P N Herbert; C B Blum; J E Buring; C H Hennekens; J L Breslow
Journal:  N Engl J Med       Date:  1986-12-11       Impact factor: 91.245

6.  Familial intestinal pseudoobstruction dominated by a progressive neurologic disease at a young age.

Authors:  J Faber; A Fich; A Steinberg; I Steiner; E Granot; I Alon; D Rachmilevitz; S Freier; A Gilai
Journal:  Gastroenterology       Date:  1987-03       Impact factor: 22.682

7.  A familial visceral myopathy with dilatation of the entire gastrointestinal tract.

Authors:  S Anuras; F A Mitros; A Milano; R Kuminsky; R Decanio; J B Green
Journal:  Gastroenterology       Date:  1986-02       Impact factor: 22.682

8.  Inherited ophthalmoplegia with intestinal pseudo-obstruction.

Authors:  V Ionasescu; S H Thompson; R Ionasescu; C Searby; S Anuras; J Christensen; F Mitros; M Hart; P Bosch
Journal:  J Neurol Sci       Date:  1983-05       Impact factor: 3.181

9.  A familial visceral myopathy with external ophthalmoplegia and autosomal recessive transmission.

Authors:  S Anuras; F A Mitros; T V Nowak; V V Ionasescu; N J Gurll; J Christensen; J B Green
Journal:  Gastroenterology       Date:  1983-02       Impact factor: 22.682

10.  A case of familial visceral myopathy with atrophy and fibrosis of the longitudinal muscle layer of the entire small bowel.

Authors:  E Jacobs; D Ardichvili; A Perissino; P Gottignies; J F Hanssens
Journal:  Gastroenterology       Date:  1979-10       Impact factor: 22.682
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  5 in total

1.  DNA viruses in the pathogenesis of sporadic chronic idiopathic intestinal pseudo-obstruction.

Authors:  H S Debinski; M A Kamm; I C Talbot; G Khan; H O Kangro; D J Jeffries
Journal:  Gut       Date:  1997-07       Impact factor: 23.059

2.  Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene.

Authors:  F Merante; I Tein; L Benson; B H Robinson
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025

3.  Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology.

Authors:  C Faure; O Goulet; S Ategbo; A Breton; P Tounian; J L Ginies; B Roquelaure; C Despres; M Scaillon; C Maurage; I Paquot; M Hermier; S De Napoli; A Dabadie; F Huet; J J Baudon; M Larchet
Journal:  Dig Dis Sci       Date:  1999-05       Impact factor: 3.199

4.  Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

Authors:  W M M Schüpbach; K Madhavi Vadday; A Schaller; C Brekenfeld; L Kappeler; J F Benoist; C Nguyen-Thi Xuan-Huong; J M Burgunder; F Seibold; S Gallati; H P Mattle
Journal:  J Neurol       Date:  2007-02-09       Impact factor: 4.849

Review 5.  Gastrointestinal motility disorders in neurologic disease.

Authors:  Michael Camilleri
Journal:  J Clin Invest       Date:  2021-02-15       Impact factor: 14.808
  5 in total

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