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Variants were called and filtered for identification of potentially pathogenic variants in candidate genes associated with myopathy and or metabolic disorder based on The Gene Table of Neuromuscular Disorders 2024 [4] (www.musclegenetable.fr/), MitoCarta 3.0 [21] and mtDNA ( Some genes associated with lipid storage myopathy and MADD-like acylcarnitine profile were analyzed in more detail ( PNPLA2 , HADHA , HADHB , ETFA , ETFB , ETFDH , COASY , FLAD1 , ACADS )

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Support in maintaining adequate energy-yielding metabolism (vitamin B6)