PMC9201482_01
Clinical features, P1. P1, an 11-year-old boy with before treatment with salbutamol, showing severe bilateral ptosis and facial weakness (A); note the improvement after salbutamol treatment; he showed only mild ptosis (B) and less fatigability, being able to walk without aid (C).
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PMC9201482_01_fneur-13-909715-g0001.jpg
F1
The Garches myasthenic score was 60/100, and he had a very restricted indoor ambulation, necessitating a wheelchair for the exteriors (Figure 1).
PMC9201482_02
PMC9201482_03
Clinical features, P2. P2, an 8-year-old girl presenting with sever bilateral ptosis before treatment with salbutamol (A); amelioration of the eyelid ptosis (B); amelioration of strength in neck extensor muscles (C).
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PMC9201482_03_fneur-13-909715-g0002.jpg
F2
On referral to our clinic at 5 years old, neurological examination revealed symmetrical axial and proximal muscular weakness, bilateral ptosis, and facial weakness with open mouth (Figure 2).
Genetics. A 2-bp shift of a reading frame from Codon 212 and premature stop codon at codon 214 of CHRNE gene (an image of this part of mRNA was taken from Alamut Visual software, Interactive Biosoftware Sophia Genetics).
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PMC9201482_03_fneur-13-909715-g0003.jpg
F3
This variant predicts a shift in a translation reading frame, a change of glycine 212 to arginine, and a premature stop codon at Codon 214 (Figure 3).