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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Opis bibliograficzny
Wydane w:G3 (Bethesda)
Główni autorzy: 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
Format: Artigo
Język:Inglês
Wydane: Genetics Society of America 2018
Hasła przedmiotowe:
Investigations
Dostęp online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5940147/
https://ncbi.nlm.nih.gov/pubmed/29491033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.118.200084
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