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Late Diagnosis of Adult-Onset Carnitine Palmitoyltransferase II Deficiency in a 63-Year-Old Man Presenting with Recurrent Rhabdomyolysis: A Case Report

2026-08-11

Abstract excerpt

<title>Abstract</title> <p>Carnitine palmitoyltransferase II (CPT II) deficiency is one of the most common disorders of long-chain fatty acid oxidation presenting in adulthood and is characterized by recurrent episodes of rhabdomyolysis, myalgia, and transient muscle weakness. Because the clinical manifestations are episodic and neurological examination and electromyography findings are often normal during asympt...

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Literature Corpus work: 1bd6f0c1-e990-55e9-9323-77125fc54c18
DOI: 10.21203/rs.3.rs-10341628/v1

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