Panel 8.1: Structural myopathies


Panel examining genes involved in the formation and maintenance of muscle structure.

Includes:

Muscular dystrophies of dominant and recessive waists, myofibrillar myopathies, nemalínicas myopathies, centronucleares myopathies, titinopatías, Emery-Dreifuss, Ullrich-Bethlem myopathy corpuscular inclusions others.

NMG8_1: Structural myopathies

Panel 8.1: Structural myopathies

Included genes:

RYR1 TCAP POMGNT1 SEPN1
DMD TRIM32 PLEC CRYAB
CAPN3 FKRP DAG1 BAG3
DYSF TTN LARGE TPM3
SGCG POMT1 ISPD NEB
SGCA ANO5 COL4A1 ACTA1
SGCB FKTN LMNA TPM2
SGCD POMT2 CAV3 TNNT1
KBTBD13 LMNA LAMA2 SMCHD1
CFL2 SYNE1 CNTN1 B3GALNT2
MTM1 SYNE2 ITGA7 MEGF10
BIN1 FHL1 CHKB CLN3
MTMR14 COL6A1 IGHMBP2 DNAJB6
DNM2 COL6A2 GMPPB HNRPDL
MYF6 COL6A3 COL12A1 TOR1AIP1
EMD MYH2 KLHL41 LDB3

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pdf filePanel 8.1: Structural myopathies