Characterization of Cardiac-Onset Initial Presentation in Friedreich Ataxia

David R. Lynch,Sub Subramony,Kimberly Y. Lin,Katherine Mathews,Susan Perlman,Grace Yoon,Christian Rummey

Pediatric Cardiology（2024）

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摘要

We examined the clinical features of Friedreich ataxia (FRDA) patients who present first with cardiac disease in order to understand the earliest features of the diagnostic journey in FRDA. We identified a group of subjects in the FACOMS natural history study whose first identified clinical feature was cardiac. Only 0.5

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Omaveloxolone,Mitochondria,Hypertrophy,Cardiomyopathy

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