CHKB (choline kinase beta) catalyzes the first committed step in phosphatidylcholine and phosphatidylethanolamine biosynthesis via the Kennedy pathway 1. As a key enzyme in phospholipid metabolism, CHKB maintains structural integrity of cell membranes and regulates mitochondrial homeostasis 2. Autosomal recessive CHKB mutations cause megaconial congenital muscular dystrophy (MCMD), characterized by early-onset muscle weakness, intellectual disability, and pathognomonic enlarged mitochondria 34. Loss-of-function mutations reduce choline kinase activity and phosphatidylcholine levels, triggering mitophagy and elimination of dysfunctional mitochondria through autophagy 4. Affected patients show reduced complex I respiratory chain activity and impaired mitochondrial fission factor (DRP1) expression 1. Clinical manifestations extend beyond muscle; brain MRI spectroscopy reveals decreased choline-based substrates, and patients develop gastrointestinal complications with acute deterioration during infection 5. CHKB is also essential for endochondral bone formation, with Chkb knockout mice displaying radius and ulna deformations due to impaired chondrocyte differentiation 6. Recently, the long noncoding RNA CHKB-DT was identified as downregulated in dilated cardiomyopathy, suggesting broader physiological roles in energy metabolism and cardiac function 7.