Free Access
Tableau I.
| Disorder | OMIM | Inheritance | Map Location | Gene | Mutation | Year | Key ref. |
|---|---|---|---|---|---|---|---|
| Limb girdle muscular dystrophy type 2C | 253700 | AR | 13q12 | SGCG | C283Y | 1996 | [1] |
| Myasthenic syndrome, congenital, type id | 608931 | AR | 17p13 | CHRNE | 1267delG | 1999 | [2] |
| Hereditary motor and sensory neuropathy-Lom | 601455 | AR | 8q24 | NDRG1 | R148X | 2000 | [3] |
| Congenital cataracts facialdysmorphism neuropathy syndrome | 604168 | AR | 18qter | CTDP1 | IVS6 +389C>T | 2003 | [4] |
| GNE myopathy | 603824 | AR | 9p13.1 | GNE | I587T | 2005 | [5] |
| Charcot-Marie-Tooth disease, type 4C | 601596 | AR | 5q32 | SH3TC2 | R1109X | 2005 | [6] |
| Hereditary motor and sensory neuropathy-Russe | 605285 | AR | 10q22 | HK1 | G>C in untranslated AltT2 exon | 2009 | [7] |
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