Diffuse abnormal layering of small intestinal smooth muscle is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction
RP Kapur, SP Robertson, MC Hannibal… - The American journal …, 2010 - journals.lww.com
X-linked intestinal pseudo-obstruction, a rare disorder caused by mutations in FLNA, the
gene encoding the cytoskeletal protein filamin A, has been regarded as a hereditary enteric
neuropathy largely on the basis of sparse and incomplete pathologic studies. Diffuse
abnormal layering of small intestinal smooth muscle (DAL) is a rare malformation, which has
only been described in 4 patients (all male, 3 in the same family) with intestinal pseudo-
obstruction. We report DAL in 5 male patients (2 families) with intestinal pseudo-obstruction …
gene encoding the cytoskeletal protein filamin A, has been regarded as a hereditary enteric
neuropathy largely on the basis of sparse and incomplete pathologic studies. Diffuse
abnormal layering of small intestinal smooth muscle (DAL) is a rare malformation, which has
only been described in 4 patients (all male, 3 in the same family) with intestinal pseudo-
obstruction. We report DAL in 5 male patients (2 families) with intestinal pseudo-obstruction …