Finally, genome sequencing revealed a missense variant (c.230G > A, p.Arg77Gln) and a frameshift variant (c.284del, p.Cys95Phefs∗241) in MEGF10 (ENST00000503335.7), present in a compound heterozygous state indicative for an autosomal-recessive MEGF10 myopathy. The gene discussed is MEGF10; the disease is myopathy.