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doi: 10.1002/cncr.9049 121 KingRWeilbaecherKNMcGillGCooleyEMihmMFisherDE
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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(PubMed) Lawson LD, Ransom DK, Hughes BG
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