Diagnostic Challenges in Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency: Clinical, Morphological, and Genetic Aspects

BACKGROUND: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation due to deficiency of the mitochondrial electron transfer chain. The late-onset form is characterized by exercise intolerance, muscle weakness, and lipid storage in myofibers. Most...

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Detalles Bibliográficos
Autores principales: Lupica, Antonino, Oteri, Rosaria, Volta, Sara, Ghezzi, Daniele, Drago, Selene Francesca Anna, Rodolico, Carmelo, Musumeci, Olimpia, Toscano, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929684/
https://www.ncbi.nlm.nih.gov/pubmed/35309592
http://dx.doi.org/10.3389/fneur.2022.815523

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8929684/
https://www.ncbi.nlm.nih.gov/pubmed/35309592
http://dx.doi.org/10.3389/fneur.2022.815523

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