Table 1.
List of hereditary NMDs identified in this study, distributed by modes of inheritance
| Autosomal Recessive | |
| BVVL2 | LGMDR5 |
| CMS25 | LGMDR6 |
| CMT2S | LGMDR10 |
| CMT2T | LGMDR23 |
| CMT4A | MDCL |
| CMT4B3 | MDDGB6 |
| CMT4C | MDDGC1 |
| CMT4F | MDDGC5 |
| CMT4H | MTPD |
| CMT6C | NEM2 |
| CMTRIC | RSMD1 |
| DSMA1 | SMA1 |
| GSD2 | SMA2 |
| LGMDR1 | SMA3 |
| LGMDR2 | UCMD1 |
| LGMDR3 | NBIA2A |
| LGMDR4 | |
| Autosomal Dominant | |
| FSHD1 | CMTDIE |
| BTHLM1 | CCD |
| FTDALS4* | TAM1 |
| ALS1* | MD1 |
| CMT1A | EDMD4* |
| X-Linked Recessive | |
| BMD | |
| CNMX | |
| DMD | |
| X-Linked Dominant | |
| CMTX1 | |
| Mitochondrial | |
| MM (MTRNR2) | |
Full names of the disorders and respective OMIM numbers are included in Table 2. *Sporadic manifestations of genetic NMDs were identified in patients with EDMD4, ALS1, and FTDALS4, associated with de novo mutations in SYNE1, SOD1, and TBK1 respectively.