Overview
- Term
- congenital myopathy
- HPO
- -
- OMIM
- -
- In SaudiVarKB
- 30 articles, 30 mentions
Co-reported genes
Genes named in the same articles as congenital myopathy. Co-mention, not a proven association.
and 4 more
Variants in these articles
Variants reported in articles that mention congenital myopathy; the gene is shown only when the link was confirmed by dbSNP or LitVar2.
| Variant | Gene | Articles |
|---|---|---|
| C287T | - | 1 |
| E211X | - | 1 |
| IVS32 | - | 1 |
| c.164_165insA | - | 1 |
| c.1817-3C>G | - | 1 |
| c.464A>G | - | 1 |
| c.6660_6670del | - | 1 |
| c.6905C>A | MYO18B | 1 |
| c.85652C>G | - | 1 |
| p.Arg84Gln | PRICKLE1 | 1 |
| p.Asn130Asp | - | 1 |
| p.Asn155Ser | PYROXD1 | 1 |
| p.E211X | - | 1 |
| p.P96L | - | 1 |
| p.Pro28551Arg | - | 1 |
| p.Ser2302* | - | 1 |
| p.Val174Ala | - | 1 |
Saudi regions
| Region | Articles |
|---|---|
| Riyadh | 2 |
| Eastern Province | 1 |
| Madinah | 1 |