FKRP

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

Pflasterstein-Lissenzephalie

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

Lissenzephalie

ARX, DCX, FKRP, ISPD, NDE1, NUDC, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, TK2, TUBA1A, VLDLR