In patients #2, #3, and #4, parallel sequencing using a customized gene panel for congenital myopathies revealed the same missense c.67G > A variant in INPP5K, which was found in the homozygous state in patient #2 and in compound heterozygosity with two distinct novel missense variants, c.165G > T (p.Leu55Phe) and c.1270G > T (p.Val424Trp) in patients #3 and #4, respectively (Table 2). Here, INPP5K is linked to congenital myopathy.