Table 1.

Representation of the predicted biological systems affected due to pathogenic variants in the associated genes, leading to the development of INMD, using the Reactome pathway database.

Biological System	Associated Genes
Muscle contraction	ACTA1, ATP2A1, CASQ1, CAV3, DES, DMD, DYSF, KCNJ12, MYBPC1, MYH3, MYH8, NEB, ORAI1, RYR1, SCN4A, SCN10A, STIM1, TAZ, TCAP, TDP1, TNNT1, TNNT3, TNNI2, TPM2, TPM3, TTN
Glycogen metabolism	AGL, GAA, GBE1, GYG1, GYS1, PYGM, PHKB, PHKA1
Extracellular matrix organization/ degradation	AGRN, CAPN3, COL1A2, COL6A1, COL6A2, COL6A3, COL6A6, COL12A1, COL13A1, DAG1, DMD, DST, FBN2, FBLN5, ITGA7, LAMA2, LAMB2, LRP4, MME, MUSK, PLEC, TNXB, TTR
O-linked glycosylation	B3GNT2, B3GALNT2, DAG1, LARGE, POMK, POMGNT1, POMGNT2, POMT1, POMT2
NCAM signaling for neurite out-growth/ interactions	AGRN, HRAS, CACNA1S, COL6A1, COL6A2, COL6A3, COL6A6, SPTBN4
EGR2 and SOX10-mediated initiation of Schwann cell myelination	ADGRG6, DAG1, DRP2, EGR2, GJB1, PRX, LAMA2, LAMB2, MPZ, PMP22, TAZ
tRNA Aminoacylation	AARS, DARS2, GARS, HARS, KARS, MARS, WARS, YARS, YARS2
Nervous system development	ADGRG6, AGRN, CACNA1S, CNTN1, CNTNAP1, COL6A1, COL6A2, COL6A3, COL6A6, DAG1, DNM2, DRP2, EGR2, GJB1, HRAS, LAMA2, LAMB2, MPZ, MYH14, PIP5K1C, PMP22, PRX, SCN4A, SCN10A, SPTBN4, TAZ
Presynaptic nicotinic acetylcholine receptors	CHRNA1, CHRND, CHRNE, CHRNG