Of the four children sent to the Neuromuscular Regional Referral Center, two presented hyperCKemia (300–700 IU/L) but were negative for the complete neuromuscular exams performed (blood count, liver and kidney blood function tests, ammonium, lactate, electrolytes, urinary organic acids, plasma amino acids, acylcarnitines, very long chain fatty acids, alfa-glucosidase dosage on Dried Blood Spot (DBS), genetic tests for SMA, DMD, and MD1), for which they were referred to an expanded genetic panel (Next Generation Sequencing panel). This evidence concerns the gene LY86 and proximal spinal muscular atrophy.