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Acetylcholine Receptor Pathway Mutations Explain Various Fetal Akinesia Deformation Sequence Disorders

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 ; Körber, Friederike ; Blankenburg, Markus ; Mundlos, Stefan ; Heller, Raoul ; Hoffmann, Katrin



Abstract

Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors. Acetylcholine receptor (AChR) components are suspects because mutations in the fetally expressed gamma subunit (CHRNG) of AChR were found in two FADS disorders, lethal multiple pterygium syndrome (LMPS) and Escobar syndrome. Other AChR ...

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