Article

Molecular and Structural Basis of Cardiac Remodelling in Niemann-Pick Type C

2026-07-09

Abstract excerpt

Niemann-Pick disease type C (NPC) is a rare autosomal recessive neurodegenerative lysosomal storage disease caused by pathogenic variants in NPC1 or NPC2. Sudden death can occur due to seizures, but cardiac involvement has not been well defined. We performed 12-lead electrocardiograms (ECG) in 14 adult NPC patients (8 male, 6 female). Cardiac structure and function were examined in Npc1-/- adult mouse hearts, alon...

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Literature Corpus work: aec2c9d1-5391-5868-b256-e8db43417ddd
DOI: 10.64898/2026.07.05.736597

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