Unrecognized High Occurrence of Genetically Confirmed Hereditary Carnitine Palmitoyltransferase II Deficiency in an Austrian Family Points to the Ongoing Underdiagnosis of the Disease

Adult muscle carnitine palmitoyltransferase (CPT) II deficiency is a rare autosomal recessive disorder of long-chain fatty acid metabolism. It is typically associated with recurrent episodes of exercise-induced rhabdomyolysis and myoglobinuria, in most cases caused by a c.338C > T mutation in the...

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Detalles Bibliográficos
Autores principales: Zach, Christina, Unterkofler, Karl, Fraunberger, Peter, Drexel, Heinz, Muendlein, Axel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540962/
https://www.ncbi.nlm.nih.gov/pubmed/31191612
http://dx.doi.org/10.3389/fgene.2019.00497

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6540962/
https://www.ncbi.nlm.nih.gov/pubmed/31191612
http://dx.doi.org/10.3389/fgene.2019.00497

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