Table 3A.

Comparison of findings in different CMS cohorts. Only patients with defects in genes also identified to be mutated in our cohort have been extracted from the different studies. Comparison of adult and mixed cohort patients and our cohort including follow-up time, point of symptom onset, time of diagnosis, and clinical symptoms depending on underlying mutation and characterization depending on the functional position on NMJ.

Study	Affected genes (Nr. of pat.)	Follow-up time (range)	Symptom onset (Nr. of pat.)	Onset to diagnosis	Long term problems in different CMS subtypes	Long term problems in pre-synaptic, synaptic, and post-synaptic forms
Natera-de Benito et al. (2017)	CHAT (2/64) COLQ (9/64) CHRNE (15/64) DOK7 (7/64) RAPSN (11/64) Slow-channel (4/64)	Mean age at last follow up 27 years (range 0.5–80)	Neonatal (17/48) Infancy (20/48) Later (11/48)	Median time from onset to diagnosis: 7 years (range 0–47.5)	Ptosis: CHAT, COLQ, CHRNE, RAPSN, DOK7, slow-channel Ophthalmoparesis: CHRNE, slow-channel Bulbar symptoms: CHAT, COLQ, CHRNE, RAPSN, DOK7, slow-channel Proximal muscle weakness: COLQ, CHRNE, RAPSN, DOK7, slow-channel Distal muscular weakness: CHAT, slow-channel Cervical muscular weakness: CHAT, COLQ, RAPSN, DOK7, slow-channel Scoliosis: COLQ, CHRNE, DOK7, slow-channel Wheelchair dependence: COLQ, CHRNE, DOK7	Presynaptic: Ptosis, bulbar symptoms, distal and cervical muscle weakness Synaptic: Ptosis, bulbar symptoms, proximal and cervical muscular weakness, scoliosis, wheelchair dependence Postsynaptic: Ptosis, ophthalmoparesis, bulbar symptoms, proximal, distal, and cervical muscle weakness, scoliosis, wheelchair dependence
Durmus et al. (2018)	CHAT (1/69) COLQ (5/69) CHRNE (46/69) DOK7 (3/69) Slow-channel (3/69) Fast-channel (3/69)	Median time: 9.8 years (1–22 years)	Neonatal (26/61) Infancy (13/61) Later: (15/61) (exact information was not provided for all patients)	Mean time from onset to diagnosis: 12.9 years	Ptosis: CHAT, CHRNE, slow-channel Ophthalmoparesis: CHRNE, slow-channel Bulbar symptoms: COLQ Proximal muscle weakness: CHAT, COLQ, CHRNE, DOK7 Distal muscle weakness: COLQ, slow-channel Cervical muscle weakness: slow- channel Scoliosis: COLQ Wheelchair dependence: CHAT Ventilatory supp.: CHAT, COLQ, slow-channel	Presynaptic: Ptosis, proximal muscle weakness, ventilatory support Synaptic: Bulbar symptoms, scoliosis, ventilator support, proximal and distal muscular weakness Postsynaptic: Ptosis, ophthalmoparesis, proximal, distal, and cervical muscle weakness, ventilatory support
Kao et al. (2018)	COLQ (2/34) CHRNE (1/34) DOK7 (14/34) RAPSN (6/34) slow channel (2/34)	Not stated	Neonatal and Infancy (11/34) Before 5 years of age (17/34) Later: (6/34)	Median time from symptom onset to diagnosis: 26.0 (4–56.5) years	Ptosis: DOK7, RAPSN Proximal muscle weakness: COLQ, DOK7, RAPSN Wheelchair dependence: DOK7, COLQ Ventilatory supp.: RAPSN, COLQ	Presynaptic: No patients Synaptic: Proximal muscle weakness, wheelchair dependence, ventilatory support Postsynaptic: Ptosis, proximal muscle weakness, wheelchair dependence, ventilatory supp.
Our cohort	CHAT (5/32) COLQ (3/32) CHRNE (7/32) DOK7 (3/32) RAPSN (8/32) MUSK (1/32) Slow channel (2/32) Fast channel (1/32)	Mean time: 12 years (range 0.5–28 years)	Neonatal (19/32) Infancy (11/32) Older than 2 years (2/32)	Mean time from symptom onset to diagnosis: 5.3 years (range 0–17 years)	Ptosis: CHAT, COLQ, CHRNE, DOK7, RAPSN, MUSK, slow-channel Ophthalmoparesis: COLQ, CHRNE, DOK7, MUSK, slow-channel Bulbar symptoms: CHAT, COLQ, CHRNE, RAPSN, MUSK, fast channel Proximal muscle weakness: CHAT, COLQ, RAPSN Distal muscle weakness: CHAT, COLQ, RAPSN Cervical muscle weakness: CHAT, COLQ, RAPSN Scoliosis: CHAT, COLQ, CHRNE, DOK7, RAPSN, MUSK Wheelchair dependence: CHAT, COLQ, CHRNE, DOK7 Ventilatory supp.: CHAT, COLQ, DOK7, MUSK Feeding tube: CHAT, MUSK	Presynaptic: Ptosis, bulbar symptoms (feeding tube), proximal, distal, and cervical muscular weakness, scoliosis, wheelchair dependence, ventilatory support Synaptic: Ptosis, ophthalmoparesis, bulbar symptoms, proximal, distal, and cervical muscular weakness, scoliosis, wheelchair dependence, ventilatory support Postsynaptic: Ptosis, ophthalmoparesis, bulbar symptoms, proximal, distal, and cervical muscular weakness, scoliosis, wheelchair dependence, ventilatory supp.