Article
Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.
Gastroenterology - 1 Dec 2012
Lehtonen Heli J, Sipponen Taina, Tojkander Sari, Karikoski Riitta, Järvinen Heikki, Laing Nigel G, Lappalainen Pekka, Aaltonen Lauri A, Tuupanen Sari
Abstract excerpt
BACKGROUND & AIMS: Familial visceral myopathy (FVM) is a rare inherited form of myopathic pseudo-obstruction; little is known about the genetic factors that cause this disorder. FVM is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. We searched for genetic factors that might cause this disorder....
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