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CMDIR Gene List

Mutations in genes that can cause a muscle disorder are always being discovered.  This is the complete list of genes the CMDIR supports as we know them today.  However, new genes that can lead to a congenital or late onset muscle condition are being discovered all the time.

ACTA1 CHAT COL6A2 DPM1 GFPT1 LARGE MYH7 RYR1 TNNT1
AGRN Chkb COL6A3 DPM2 GMPPB LDB3 (ZASP) MYOT SCN4A TPM2
ALG14 CHRNA1 COLQ DPM3 GOSR2 LMNA NEB SEPN1 TPM3
ALG2 CHRNB1 CRYAB EMD GTDC2 LRP4 PIGY SPEG TTN
B3GALNT2 CHRND CTBP1 FHL1 ISPD MEGF10 PLEC SUN1 TRAPPC11
B4GAT1 CHRNE DAG1 FKBP14 ITGA7 MICU1 POMGnT1 SUN2  
BAG3 CHRNG DES FKRP KBTBD13 MTM1 POMK SYNE1  
BIN1 CNTN1 DNM2 FKTN KLHL40 MUSK POMT1 SYNE2  
CCDC78 COL12A1 DOK7 FLNC KLHL41 MYF6 POMT2 TCAP  
CFL2 COL6A1 DPAGT GAA LAMA2 MYH2 RASPN TMEM5  

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updated:  July, 2016