Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome

ABSTRACT Background Barth syndrome (BTHS) is a rare X‐linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodelling and mitochondrial function. While cardiac manifestations of BTHS are well characterized in male patients, the mechanisms underlyin...

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Autores principales:	Catalina Matias, Paige L. Snider, Elizabeth A. Sierra Potchanant, Joshua R. Huot, Rahul Raghav, Michael T. Chin, Simon J. Conway, Jeffrey J. Brault
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2026-04-01
Colección:	Journal of Cachexia, Sarcopenia and Muscle
Materias:	adenine nucleotides ATP Barth syndrome cardiolipin electrophysiology integrated stress response
Acceso en línea:	https://doi.org/10.1002/jcsm.70246
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