The mean age (3 male, 14 female) was 18.4+13.6, the onset age ranged between the first day and the first 3 months of life in 11 cases, and 1 and 16 years in 6 patients. The most common complaints at the first 3 months were ptosis (6/11), feeding difficulty (7/11), difficulty in breathing (3/11). After the first age of life, walking late (2/6) and fatigue triggered by movement (6/6) were common.
CHRNE (homozygous [c.1219+2T>G]; [c.199 G>T]; and novel [c.452_454delAGG]; heterozygous [c.1220-8+8dup and c.1327-1327delG]; [ c. .1327delG and c803-2A<G]) (5 patients): All showed mildly weakness in ocular, bulbar and limbs muscles and good response to pyridostigmine.
DOK7 (homozygous [c.93_95delCTGLP+c.1120_1121insGCCTP]) (3 siblings). Mild ocular and bulbar muscle weakness, moderate limbs weakness were found and benefiting from salbutamol.
GFPT1 (composite heterozygous [c.50G>A and c.408+5G>A]; homozygous [c.686-2A>G]; [c.44C>T, p.]) (3 patients) and CHAT ([c.1669G>A]) (1 patient): All were ambulatory and had good response to pyridostigmine.
COLQ (homozygous [14-15 exons] deletion and c.44G>A,) (3 patients ): Two siblings worsened under pyridostigmine, and had a marked response to salbutamol. The other one benefited from 3,4-diaminopyridine.
AchR epsilon subunit (combined heterozygous [L240I and C302Y]) (1 patient): , She showed respiratory distress and markedly response to pyridostigmine.
AGRN (novel,homozygous [c.5387G>A and C4217 A>C]) (1 Patient). She had fatigue and worsened with pyridostigmine and had a dramatic response from salbutamol.