Congenital muscular dystonia 1
Phenotype Details
- Phene ID
- 2857
- Name
- Congenital muscular dystonia 1
- Phene Name
- N/A
- OMIA ID
- 1450
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2008
Linked Variants
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 188 | Congenital muscular dystonia 1 | 38908820 | 1 | 25 | NC_037352.1:g.25933247G>A | NM_001075767.1:c.1675C>T | NP_001069235.1:p.(R559C) |
Linked Breeds
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
| Maas-Rijn-Ijssel (Cattle) | 237 | 9913 | http://purl.obolibrary.org/obo/VBO_0000285 |
Summary
In the words of Charlier et al. (2008), "All calves with CMD have episodes of generalized muscle contractures, but careful clinical examination suggested two distinct phenotypes (CMD1 and CMD2)."
Molecular Genetics
"A missense mutation (C1676T) leading to a R559C substitution in exon 14 of ATP2A1" (Charlier et al., 2008)