Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report

BACKGROUND: Lipid storage myopathy (LSM) is an autosomal recessive inherited lipid and amino metabolic disorder with great clinical heterogeneity. Variations in the electron transfer flavoprotein dehydrogenase (ETFDH) gene cause multiple acyl-CoA dehydrogenase deficiency (MADD), and have a manifesta...

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Detalles Bibliográficos
Autores principales: Tian, Huihong, Zhong, Yi, Liu, Zhihua, Wei, Liping, Yuan, Yanbo, Zhang, Yuhu, Wang, Limin
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/PMC9799051/
https://www.ncbi.nlm.nih.gov/pubmed/36588907
http://dx.doi.org/10.3389/fneur.2022.991060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9799051/
https://www.ncbi.nlm.nih.gov/pubmed/36588907
http://dx.doi.org/10.3389/fneur.2022.991060

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