“…The investigation for subtle enzymatic functional changes [1,3] or the different amount of muscular dystrophy proteins may help elucidate the functional significance of these heterozygous variants. Biochemical analytes study such as acylcarnitine profiles [2] mentioned by one correspondence is not sensitive or specific enough to detect the effect of these heterozygous variants. Surprisingly, we identified a pathogenic variant in GLA, known to cause Fabry disease in one patient.…”