Chronic intestinal pseudoobstruction with myopathy and ophthalmoplegia

1992 ◽  
Vol 37 (3) ◽  
pp. 456-463 ◽  
Author(s):  
Veronique Li ◽  
Jean Hostein ◽  
Norma B. Romero ◽  
Cecile Marsac ◽  
Paulette Mezin ◽  
...  

1992 ◽  
Vol 28 (2) ◽  
pp. 287
Author(s):  
Kyung Mo Yeon ◽  
Jeong Kee Seo ◽  
Yong Seok Lee


2000 ◽  
Vol 118 (4) ◽  
pp. A866
Author(s):  
Catherine J. Streutker ◽  
Robert H. Riddell ◽  
Jan D. Huizinga ◽  
Fiona Campbell ◽  
Jean Ho


Surgery ◽  
2021 ◽  
Author(s):  
Julia Elrod ◽  
Konrad Reinshagen ◽  
Michael Boettcher


Author(s):  
S. Cucchiara ◽  
M. Bortolotti ◽  
R. Mineral ◽  
P. Basile ◽  
V. Tortora ◽  
...  


2018 ◽  
Vol 27 (1) ◽  
pp. 77-83 ◽  
Author(s):  
Rebecca R. J. Collins ◽  
Bradley Barth ◽  
Stephen Megison ◽  
Cory M. Pfeifer ◽  
Luke M. Rice ◽  
...  

Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 ( ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.





1982 ◽  
Vol 1 (1) ◽  
pp. 137-144 ◽  
Author(s):  
Sinn Anuras ◽  
Frank A. Mitros ◽  
Siroos S. Shirazi ◽  
Robert T. Soper ◽  
Kabir Younoszai ◽  
...  


2010 ◽  
Vol 45 (11) ◽  
pp. 2234-2237 ◽  
Author(s):  
Sabine Irtan ◽  
Marc Bellaïche ◽  
Christopher Brasher ◽  
Alaa El Ghoneimi ◽  
Jean Paul Cézard ◽  
...  


1991 ◽  
Vol 101 (6) ◽  
pp. 1564-1570 ◽  
Author(s):  
Carlo Di Lorenzo ◽  
S.Narasimha Reddy ◽  
Javier Villanueva-Meyer ◽  
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Shelley Martin ◽  
...  


1999 ◽  
Vol 42 (7) ◽  
pp. 1545-1549 ◽  
Author(s):  
Gabriel Perlemuter ◽  
Patrice Cacoub ◽  
Stanislas Chaussade ◽  
Bertrand Wechsler ◽  
Daniel Couturier ◽  
...  


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