Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

Authors :: Michalk, Anne
Stricker, Sigmar
Becker, Jutta
Rupps, Rosemarie
Pantzar, Tapio
Miertus, Jan
Botta, Giovanni
Naretto, Valeria G.
Janetzki, Catrin
Yaqoob, Nausheen
Ott, Claus-Eric
Seelow, Dominik
Wieczorek, Dagmar
Fiebig, Britta
Wirth, Brunhilde
Hoopmann, Markus
Walther, Marisa
Korber, Friederike
Blankenburg, Markus
Mundlos, Stefan
Heller, Raoul
Hoffmann, Katrin
Source :: American Journal of Human Genetics. Feb, 2008, Vol. 82 Issue 2, p464, 13 p.
Publication Year :: 2008
Abstract: The pathway mutations associated with the acetylcholine receptor (AChR) are studied to explain the various fetal akinesia deformation sequence (FADs) disorders. Severe alterations in the AChR lead to lethal multiple pterygium syndrome, whereas minor changes lead to fetal hypokinesia.

Subjects :: Akinesia -- Research
Akinesia -- Genetic aspects
Acetylcholine -- Receptors
Acetylcholine -- Research
Acetylcholine -- Physiological aspects
Biological sciences

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