Broadening the Spectrum of SLC22A5 Phenotype: Primary Carnitine Deficiency Presenting with Focal Myoclonus

Primary carnitine deficiency (PCD) is caused by pathogenic variants of the SLC22A5 gene, which encodes a transmembrane protein that functions as a high affinity carnitine transporter. Carnitine is essential for the transport of acyl-CoA, produced from fatty acids, into the mitochondria where they ar...

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Detalles Bibliográficos
Autores principales: Khries, Maymunah, Lim, Albert, Mitra, Dipayan, Anderson, Mark, Bengtsson, Jan, Bowron, Ann, Harris, Elizabeth, Blickwedel, Jessica, Wood, Karen, Basu, Anna P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354736/
https://www.ncbi.nlm.nih.gov/pubmed/37475835
http://dx.doi.org/10.1177/2329048X231184183

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