{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:06:41Z","timestamp":1790276801364,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,11,4]],"date-time":"2003-11-04T00:00:00Z","timestamp":1067904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2004,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial trifunctional protein (TFP) deficiency is a rare disorder of the fatty acid \u03b2\u2010oxidation cycle with heterogeneous phenotypes and occurs secondary to either \u03b1\u2010 or \u03b2\u2010subunit mutations. We characterized the neuromyopathic phenotype of TFP deficiency through adolescence or adulthood in 11 patients, 8 with \u03b2\u2010subunit mutations and 3 with \u03b1\u2010subunit mutations. Two independent clinical features occurred: infantile\u2010onset progressive peripheral neuropathy and episodic exercise\u2010, illness\u2010 or fasting\u2010induced rhabdomyolysis accompanied by respiratory failure (in five patients). The combination of episodic rhabdomyolysis and peripheral neuropathy occurred in 10 of the 11 patients. The neuromyopathic phenotype is common in TFP deficiency (11 of 27 families from our cohort). Therefore, this disorder must be considered in the differential diagnosis of progressive peripheral neuropathy with or without episodic myoglobinuria. 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