Article
Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction.
Neurogastroenterology and motility - 1 Sept 2018
Ravenscroft G, Pannell S, O'Grady G, Ong R, Ee H C, Faiz F, Marns L, Goel H, Kumarasinghe P, Sollis E, Sivadorai P, Wilson M, Magoffin A, Nightingale S, Freckmann M-L, Kirk E P, Sachdev R, Lemberg D A, Delatycki M B, Kamm M A, Basnayake C, Lamont P J, Amor D J, Jones K, Schilperoort J, Davis M R, Laing N G
Abstract excerpt
BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult...
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