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J Med Genet 46:203-208 doi:10.1136/jmg.2008.063693
  • Mutation report

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

Table 2 Morphometric data
Patient Control
EI* 5.68 (0.66)** (n = 24) 11.71 (2.36) (n = 12)
Secondary clefts per primary cleft length 1.82 (0.19) (n = 24) 1.79 (0.14) (n = 12)
Nerve terminal area (μm2) 3.73 (0.53)*** (n = 24) 7.34 (0.93) (n = 12)
Number of synaptic vesicles/μm2 9.48 (1.14)** (n = 23) 16.77 (2.77) (n = 12)
Cleft width (μm) 0.16 (0.030)** (n = 11) 0.074 (0.0036) (n = 12)
  • *EI, endplate index (postsynaptic membrane length/presynaptic membrane length).

  • Values reported as mean (SEM).

  • **p<0.05; ***p<0.001.

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