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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Detalhes bibliográficos
Publicado no:G3 (Bethesda)
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Genetics Society of America 2018
Assuntos:
Investigations
Acesso em linha: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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