In other muscular dystrophies and congenital myopathies, LAMA2-, COL6-, and RYR1-related conditions were most frequently implicated, consistent with prior findings on early-onset muscle diseases.9,11,18–20 Notably, two unrelated patients shared the same c.598del (p.Gln200Argfs*11) homozygous CHKB mutation, presenting with delayed walking, proximal muscle weakness, and elevated CK levels (1279–1545 U/L), as described in a similar Chinese case.21 This may suggest a founder effect in the Asian population, warranting further investigation. Here, RYR1 is linked to congenital myopathy.