Table 2.

Exome sequencing results of subjects with recurrent exertional rhabdomyolysis.

	Genes and variants	Pathogenicitya	Inheritance	Gene function, affected pathway	Disease association, mode of disease inheritanceb
R279	NDUFA10: N288RfsTer20	Likely Pathogenic	Heterozygous	Respiratory chain-electron transport	Mitochondrial complex I deficiency, AR
	PYGM: R387C	VUS	Heterozygous	Muscle glycogen metabolism	Glycogen storage disease type V, AR
	TIMM50: R342W	VUS	Heterozygous	Mitochondrial protein transport	Mitochondrial 3-methylglutaconic aciduria, AR
R302	HMBS: R175W	Likely Pathogenic	Heterozygous	Heme biosynthesis	Acute intermittent porphyria, AD
	GBE1: D413N	VUS	Heterozygous	Glycogen synthesis and storage	Glycogen storage disease type IV, AR
	RYR1: T4823 M	VUS	Heterozygous	Muscle calcium regulation	Malignant hyperthermia, AD
					Core myopathy, AD/AR
	PHKA1: L718F	VUS	Hemizygous	Muscle glycogen metabolism	Glycogen storage disease type IX, X linked
R410	GBE1: R524Ter	Pathogenic	Heterozygous	Glycogen synthesis and storage	Glycogen storage disease type IV, AR
	PCCB: G407RfrTer14	Pathogenic	Heterozygous	Catabolism of fatty acids, aminoacids	Propionic acidemia type II, AR
R462	HMBS: R225Q	Pathogenic	Heterozygous	Heme biosynthesis	Acute intermittent porphyria, AD
	CACNA1S: R498L	VUS	Heterozygous	Muscle calcium regulation	Malignant hyperthermia, AD
					Hypokalemic periodic paralysis, AD
	NDUFS8: I126V	VUS	Heterozygous	Respiratory chain-electron transport	Mitochondrial complex I deficiency, AR
	R2C	Likely benign	Heterozygous
R465	CPT2: K457Ter	Likely pathogenic	Heterozygous	Catabolism of fatty acid	Carnitine palmitoyltransferase II deficiency, AR
	ELAC2: Q92RfsTer9	Likely pathogenic	Heterozygous	tRNA maturation in mitochondria	Combined oxidative phosphorylation deficiency, AR
R469	NDUFA6: I120KfrTer44	Likely pathogenic	Heterozygous	Respiratory chain-electron transport	Member of mitochondrial complex I, AR
	ACADVL: S110Y	VUS	Heterozygous	Catabolism of fatty acid	Very long-chain Acyl-CoA dehydrogenase deficiency, AR
R470	NUBPL: IVS8DS	Pathogenic	Heterozygous	Respiratory chain-electron transport	Mitochondrial complex I deficiency, AR
	OAT: Y299Ter	Pathogenic	Heterozygous	Ornithine catabolism	Ornithine keto acid aminotransferase deficiency, AR

^aVariants previously reported as pathogenic are in bold.

^bAD - autosomal dominant, AR - autosomal recessive.