FKTN

Gliedergürtelmuskeldystrophie (LGMD) – autosomal rezessiv

ANO5, CAPN3, DAG1, DYSF, FKRP, FKTN, PLEC, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32

Gliedergürtelmuskeldystrophie (LGMD), Basisdiagnostik

ANO5, CAPN3, CAV3, DYSF, FKRP, FKTN, LMNA, MYOT (TTID), SGCA, SGCB, SGCD, SGCG, TCAP, TRIM32

Dilatative Kardiomyopathie (DCM), erweiterte Diagnostik

ACTC1, ANKRD1, CSRP3, DMD, DSC2, DSG2, DSP, DTNA, EMD, FKTN, JUP, MYH6, PKP2, PLN, RYR2, SGCD, TAZ, TCAP, TGFB3, TMEM43, TNNC1, VCL

Pflasterstein-Lissenzephalie

COL4A1, FKRP, FKTN, ISPD, POMGNT1, POMT1, POMT2