ErkrankungGen(e)
Central Core DiseaseRYR1
Dystroglykanopathie Typ AB3GALNT2 B3GNT1 FKRP FKTN GMPPB ISPD LARGE POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5
Dystroglykanopathie Typ BFKRP FKTN GMPPB LARGE POMGNT1 POMT1 POMT2
Dystroglykanopathie Typ CDAG1 FKRP FKTN GMPPB POMGNT1 POMT1 POMT2
Emery-Dreifuss MuskeldystrophieEMD FHL1 LMNA SYNE1 SYNE2 TMEM43
Gliedergürtel-MuskeldystrophieANO5 CAPN3 CAV3 DAG1 DES DNAJB6 DYSF FKRP FKTN GMPPB LMNA MYOT PLEC1 POMGNT1 POMT1 POMT2 SGCA SGCB SGCD SGCG TCAP TRAPPC11 TRIM32 TTN
Miyoshi MuskeldystrophieANO5 DYSF
Muskeldystrophie Becker / DuchenneDMD
Muskeldystrophie kongenitalB3GNT1 COL6A1 COL6A2 COL6A3 FKRP FKTN G3GALNT2 GMPPB ISPD ITGA7 LAMA2 LARGE LMNA POMGNT1 POMGNT2 POMK POMT1 POMT2 TMEM5
MyasthenieAGRN CHAT CHRNA1 CHRNB1 CHRND CHRNE CHRNG COLQ DOK7 GFPT1 MUSK RAPSN SCN4A
Myoadenylat Desaminase-MangelAMPD1
Myotone DystrophieDMPK ZNF9
Myotonia congenitaCLCN1 SCN4A
Nemaline MyopathieACTA1 CFL2 KBTBD13 KLHL40 KLHL41 NEB TNNT1 TPM2 TPM3
Okulopharyngeale MuskeldystrophiePABPN1
Spinale MuskelatrophieASAH1 ATP7A BICD2 BSCL2 DNAJB2 DYNC1H1 FBXO38 GARS HSPB8 IGHMBP2 PLEKHG5 SLC5A7 SMN1 TRPV4 TRPV4 UBA1 VAPB
Spinobulbäre Muskelatrophie /Kennedy S.AR


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