Why the study?
The study aimed to investigate the clinical features, biochemical, histopathological, and genetic findings in patients diagnosed with the myopathic form of CPT II deficiency.
CPT II deficiency should be considered in the differential diagnosis of recurrent rhabdomyolysis even if typical acylcarnitine elevation is absent, highlighting the importance of genetic analysis.
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Normal acylcarnitine profiles may miss myopathic CPT II deficiency; hypothesis-generating for genetic testing in unexplained rhabdomyolysis.
Yazıcı et al. (2023) studied this question.
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