The detail information of Exercise induced metabolic myopathy
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2018
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| ACADVL | acyl-CoA dehydrogenase, very long chain | Canis lupus familiaris | Chr5 : 32294698 - 32299874 | Homologene, Ensembl, NCBI gene |
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2019 |
Mühlhause,F.,Tipold,A.,Rohn,K.,Lepori,V.,Leeb,T.,Sewell,A.C.,Kornberg,M.: :
[Follow-up study in German Hunting Terrier dogs with exercise induced metabolic myopathy]. Tierarztl Prax Ausg K Kleintiere Heimtiere 47:402-410, 2019. Pubmed reference: 31814088 . DOI: 10.1055/a-1027-2533 . |
| 2018 |
Lepori,V.,Mühlhause,F.,Sewell,A.C.,Jagannathan,V.,Janzen,N.,Rosati,M.,MaximianoAlvesdeSousa,F.M.,Tschopp,A.,Schüpbach,G.,Matiasek,K.,Tipold,A.,Leeb,T.,Kornberg,M.,Lepori,V.,Mühlhause,F.,Sewell,A.C.,Jagannathan,V.,Janzen,N.,Rosati,M.,AlvesdeSousa,F.M.M.,Tschopp,A.,Schüpbach,G.,Matiasek,K.,Tipold,A.,Leeb,T.,Kornberg,M.: :
A Nonsense Variant in the <i>ACADVL</i> Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy. G3 (Bethesda) 8:1545-1554, 2018. Pubmed reference: 29491033 . DOI: 10.1534/g3.118.200084 . |