Based on the FLAD1 genotype, we assume that our patient might develop a milder phenotype (lipid storage myopathy), similar to previously described patients, who are compound heterozygous with the NM_025207.4: [1588C>T], p.[Arg530Cys] variant in one allele and an exon 2 nonsense variant in the other allele (Auranen et al., 2017; Olsen et al., 2016). Here, FLAD1 is linked to myopathy with abnormal lipid metabolism.