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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Detalhes bibliográficos

Principais autores:	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
Idioma:	Inglês
Publicado em:	Wiley 2026-04-01
Colecção:	Journal of Cachexia, Sarcopenia and Muscle
Assuntos:	adenine nucleotides ATP Barth syndrome cardiolipin electrophysiology integrated stress response
Acesso em linha:	https://doi.org/10.1002/jcsm.70246
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