Expanding the genetic and clinical spectrum of SLC25A42‐associated disorders and testing of pantothenic acid to improve CoA level in vitro

Abstract SLC25A42 encodes the mitochondrial coenzyme A (CoA) transporter localized at the inner mitochondrial membrane. SLC25A42 deficiency leads to a congenital disease with a heterogeneous clinical presentation, including myopathy, developmental delay, lactic acidosis, and encephalopathy. Twenty‐o...

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Bibliografiska uppgifter

Huvudupphov:	Katharina Heckmann, Arcangela Iuso, Janine Reunert, Marianne Grüneberg, Anja Seelhöfer, Stephan Rust, Giuseppe Fiermonte, Eleonora Paradies, Carmela Piazzolla, Manoj Mannil, Thorsten Marquardt
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	Wiley 2024-11-01
Serie:	JIMD Reports
Ämnen:	cellular CoA mitochondrial coenzyme transporter mitochondrial respiration pantothenic acid SLC25A42
Länkar:	https://doi.org/10.1002/jmd2.12441
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