A Nonsense Variant in the ACADVL Gene in German Hunting Terriers with Exercise Induced Metabolic Myopathy

Several enzymes are involved in fatty acid oxidation, which is a key process in mitochondrial energy production. Inherited defects affecting any step of fatty acid oxidation can result in clinical disease. We present here an extended family of German Hunting Terriers with 10 dogs affected by clinica...

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Detalles Bibliográficos
Autores principales: Lepori, Vincent, Mühlhause, Franziska, Sewell, Adrian C., Jagannathan, Vidhya, Janzen, Nils, Rosati, Marco, Alves de Sousa, Filipe Miguel Maximiano, Tschopp, Aurélie, Schüpbach, Gertraud, Matiasek, Kaspar, Tipold, Andrea, Leeb, Tosso, Kornberg, Marion
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2018
Materias:
Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940147/
https://www.ncbi.nlm.nih.gov/pubmed/29491033
http://dx.doi.org/10.1534/g3.118.200084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5940147/
https://www.ncbi.nlm.nih.gov/pubmed/29491033
http://dx.doi.org/10.1534/g3.118.200084

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