Juvenile-Onset Recurrent Rhabdomyolysis Due to Compound Heterozygote Variants in the ACADVL Gene

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a rare autosomal recessive long-chain fatty acid oxidation disorder caused by mutations in the ACADVL gene. The myopathic form presents with exercise intolerance, exercise-related rhabdomyolysis, and muscle pain, usually starting during ad...

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Detalles Bibliográficos
Autores principales: Labella, Beatrice, Lanzi, Gaetana, Cotti Piccinelli, Stefano, Caria, Filomena, Damioli, Simona, Risi, Barbara, Bertella, Enrica, Poli, Loris, Padovani, Alessandro, Filosto, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452278/
https://www.ncbi.nlm.nih.gov/pubmed/37626534
http://dx.doi.org/10.3390/brainsci13081178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10452278/
https://www.ncbi.nlm.nih.gov/pubmed/37626534
http://dx.doi.org/10.3390/brainsci13081178

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