MYBPC1 encodes myosin-binding protein C, slow type (sMyBP-C), a sarcomeric thick filament-associated protein localized at the C-zone of the A-band 1. The protein binds to both myosin and actin filaments, modulating actomyosin crossbridge cycling and regulating skeletal muscle contractility 1. sMyBP-C undergoes extensive exon shuffling to generate multiple variants co-expressed in slow and fast skeletal muscles, with phosphorylation sites modified by PKA and PKC 1. Beyond its regulatory role, MYBPC1 appears to serve a primarily structural function, as sarcomeric disorganization accompanies contractile dysfunction in affected muscles 2. Pathogenic missense and nonsense mutations in MYBPC1 cause Myotrem (congenital myopathy 16), an early-onset disorder characterized by muscle weakness, hypotonia, skeletal deformities, and myogenic tremor 123. Clinical features overlap with spinal muscular atrophy, including hypotonia and involuntary tongue/limb movements, complicating differential diagnosis 4. MYBPC1 mutations are also associated with arthrogryposis distal 1B and lethal congenital contracture syndrome 4. Phenotypic manifestation shows muscle-specific, age-dependent, and sex-dependent progression, with soleus muscle consistently affected across sexes while tibialis anterior shows male-specific decline at 24 months 2. Interestingly, MYBPC1 is downregulated in laryngeal carcinoma, functioning as a tumor suppressor 5.