four and a half lim protein 1c (fhl1c) a binding partner for voltage-gated potassium channel kv1.5四个半lim蛋白1 c(fhl1c)电压门控钾通道kv1.5约束力的合作伙伴.pdfVIP

Four and a Half LIM Protein 1C (FHL1C): A Binding Partner for Voltage-Gated Potassium Channel Kv1.5 1 2 3 4 2 Ivana Poparic , Wolfgang Schreibmayer , Benedikt Schoser , Gernot Desoye , Astrid Gorischek , Heidi 4 5 6 5 1 Miedl , Sonja Hochmeister , Josepha Binder , Stefan Quasthoff , Klaus Wagner , Christian Windpassinger1*, Ernst Malle7 1 Institute of Human Genetics, Institute of Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria, 2 Institute of Biophysics, Institute of Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria, 3 Department of Neurology, Friedrich Baur Institute, Ludwig Maximilians University of Munich, Munich, Germany, 4 Department of Obstetrics and Gynaecology, Institute of Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria, 5 Department of Neurology, Institute of Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria, 6 Department of Cardiology, Institute of Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria, 7 Center for Molecular Medicine, Institute of Molecular Biology and Biochemistry, Medical University of Graz, Graz, Austria Abstract Four-and-a-half LIM domain protein 1 isoform A (FHL1A) is predominantly expressed in skeletal and cardiac muscle. Mutations in the FHL1 gene are causative for several types of hereditary myopathies including X-linked myopathy with postural muscle atrophy (XMPMA). We here studied myoblasts from XMPMA patients. We found that functional FHL1A protein is completely absent in patient myoblasts.