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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 FKTN PGM3
AGRN FLNC PIGY
ALG14 GAA PLEC
ALG2 GFPT1 POMGNT1
B3GALNT2 GFT1 POMK
B4GAT1 GMPPB POMT1
BAG3 GNE POMT2
BIN1 GOSR2 PREPL
CCDC78 GTDC2 RASPN
CFL2 INPP5K RYR1
CHAT ISPD SBY1 (VAMP1)
CHKB ITGA7 SCN4A
CHRNA1 KBTBD13 SEPN1
CHRNB1 KLHL40 SGK196
CHRND KLHL41 SLC18A3
CHRNE KY SLC25A1
CHRNG LAMA2 SLC5A7
CNTN1 LAMA5 SNAP25
COL12A1 LAMB2 SPEG
COL13A1 LARGE STIM1
COL6A1 LDB3 (ZASP) SUN1
COL6A2 LFNG SUN2
COL6A3 LMNA SYNE1
COLQ LMOD2 SYNE2
CRYAB LRP4 SYT2
CTBP1 MEGF10 TCAP
DAG1 MICU1 TMEM5
DES MTM1 TNNT1
DNM2 MUSK TNNT3
DOK7 MY09A TPM2
DPAGT1 MYF6 TPM3
DPM1 MYH2 TRAPPC11
DPM2 MYH7 TRDN
DPM3 MYOT TTN
EMD NEB TUBB3
FHL1 NEFL UNC13A
FKBP14 ORAI1 VAMP1 (SBY1)
FKRP PGM1 ZASP (LDB3)

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updated:  April, 2018