Annotation Detail
Information
- Associated Genes
- AMPD1
- Associated Variants
-
MSTN p.Lys153Arg (p.K153R)
(
ENST00000260950.5 )
MSTN p.Lys153Arg (p.K153R) ( ENST00000260950.5 ) - Associated Disease
- Glycogen Storage Disease Type V
- Source Database
- DisGeNET
- Description
- We compared clinical presentation and exercise capacity between (i) four women with McArdle disease (aged 17, 36, 42 and 70 years) who were also carriers of the K153R variant in the myostatin (GDF-8) gene and in (ii) four women with this disorder matched forage (16, 33, 40 and 69 years), lifestyle, and documented genotype modulators of this disease (ACE, AMPD1 and ACTN3), who did not carry the myostatin variant.
- Pubmed
- 19232494
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00527694770136467
- Year of publication
- 2009
Drugs