Literature DB >> 1450855

Familial hollow visceral myopathy with varying urological manifestations.

D Higman1, P Peters, M Stewart.   

Abstract

A family with hereditary hollow visceral myopathy is described, with characteristic variation in expression between affected members. Very severe and widespread involvement of the gastrointestinal and urinary tracts in 1 patient contrasted with isolated urinary tract involvement in 2 others, and it is suggested that hollow visceral myopathy should be considered in the differential diagnosis of primary detrusor failure. The management of urinary tract involvement is discussed and a conservative approach is recommended.

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Year:  1992        PMID: 1450855     DOI: 10.1111/j.1464-410x.1992.tb15804.x

Source DB:  PubMed          Journal:  Br J Urol        ISSN: 0007-1331


  6 in total

1.  Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.

Authors:  Aubrey Milunsky; Clinton Baldwin; Xiaoying Zhang; Daniel Primack; Adrian Curnow; Jeff Milunsky
Journal:  J Pediatr Gastroenterol Nutr       Date:  2017-10       Impact factor: 2.839

2.  Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

Authors:  Joakim Klar; Doroteya Raykova; Elisabet Gustafson; Iveta Tóthová; Adam Ameur; Alkwin Wanders; Niklas Dahl
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

Review 3.  Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review.

Authors:  Danielle Mc Laughlin; Prem Puri
Journal:  Pediatr Surg Int       Date:  2013-09       Impact factor: 1.827

4.  Clinical characteristics of chronic idiopathic intestinal pseudo-obstruction in adults.

Authors:  S D Mann; H S Debinski; M A Kamm
Journal:  Gut       Date:  1997-11       Impact factor: 23.059

5.  Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

Authors:  Michael F Wangler; Claudia Gonzaga-Jauregui; Tomasz Gambin; Samantha Penney; Timothy Moss; Atul Chopra; Frank J Probst; Fan Xia; Yaping Yang; Steven Werlin; Ieva Eglite; Liene Kornejeva; Carlos A Bacino; Dustin Baldridge; Jeff Neul; Efrat Lev Lehman; Austin Larson; Joke Beuten; Donna M Muzny; Shalini Jhangiani; Richard A Gibbs; James R Lupski; Arthur Beaudet
Journal:  PLoS Genet       Date:  2014-03-27       Impact factor: 5.917

6.  The management of adult patients with severe chronic small intestinal dysmotility.

Authors:  Jeremy M D Nightingale; Peter Paine; John McLaughlin; Anton Emmanuel; Joanne E Martin; Simon Lal
Journal:  Gut       Date:  2020-08-21       Impact factor: 23.059

  6 in total

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