Table 2.

Demographic, clinical and genetic characteristics of previously reported patients

First Author	Age of onset, sex	Clinical manifestation	Genetic
Herrera-Olivares A.M.[10]	23, F	Recurrent rhabdomyolysis	Compound heterozygous: c.589G>A (p.Val197Met) and c.1742T>C (p.lle581Thr)
Hisahara, S.[11]	17, M	Recurrent rhabdomyolysis	Heterozygous: missense mutation, c.1242G>C p.(Glu414Asp) in exon 12 with single nucleotide polymorphism: a C>T variation in intron 6.
Voermans, N.C.[12]	51, F	Exercise intolerance	Heterozygous: c.1322G>A p.(Gly441Asp). The second mutation may have been missed if it is located outside the examined region of the gene.
Smelt AH.[25]	40, F	Muscle pain and stiffness	Compound heterozygous: G>A; p.(Gly40lAsp) in exon 13 and G>A in exon 14 (p.(Arg410His)
Stępień K.M.[14]	17, F	Rhabdomyolysis	Homozygous: c.1106T>G; p.(Phe369Cys), in exon 11
Murata K.Y.[15]	29, F	Exercise-induced muscle pain	Homozygous: c.272C>T; p.(Pro91Leu)
Mendez-Figueroa H.[16]	20, F	Recurrent episodes of muscle weakness, chronic myalgia, rhabdomyolysis	Compound heterozygous: c.848T>C (p.Val283Ala) and c.879–8T>A
Voermans N.C.[17]	20, M	Exercise-induced rhabdomyolysis	Heterozygous: c.848T>C p.(Val243Ala) and c.1322G>A; p.(Gly401Asp)
Merinero B.[18]	17, F	Exercise-induced muscle pain and myoglobinuria.	Compound heterozygous: c.1213G>C; p.(Asp365His) in exon 12 and c.1349G>A; p.(Arg410His) in exon 14.