ACHE and X-linked myopathy with excessive autophagy: Previous studies [4–6] have shown that GFPT1-CMS presents distinct clinical features, including: (1) early onset, typically before age 10; (2) limb-girdle weakness, predominantly affecting proximal limbs; (3) absence of oculobulbar or respiratory muscle involvement; (4) a decremental response on repetitive nerve stimulation (RNS) testing; (5) pathological findings of tubular aggregates or vacuolar myopathy; and (6) a favorable response to acetylcholinesterase inhibitors (AChEI) and 3,4-diaminopyridine (3,4-DAP) [5].