Article

Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth Syndrome

2025-11-03

Abstract excerpt

<h4>Background</h4> Barth syndrome (BTHS) is a rare X-linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodeling and mitochondrial function. While cardiac manifestations of BTHS are well characterized, the mechanisms underlying skeletal muscle weakness and fatigability are poorly understood. <h4>Methods</h4> We investigated neuromuscular and mitochondrial...

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Literature Corpus work: 1385b416-aacf-5088-8597-bb88319394cd
DOI: 10.1101/2025.10.31.685856

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