Table 1.
Clinical data of the 6 patients with COLQ mutation which occurred at adolescence were found.
| Sex | Age of onset(year) | Family History | Motor Weakness | Respiratory crises | Reaction of AchE inhibitors | Gene |
|---|---|---|---|---|---|---|
| M | 12 | Y | Y | N | ND | ND [9] |
| F | 12 | ND | Y | ND | ND | Y440D and I447 M [10] |
| M | 10 | Proximal/axial/distal/neck | N | ND | p.C427C (c.1281C > T) Homozygote [7] |
|
| F | 10 | ND | Proximal/Scoliosis | N | ND | Y430S Homozygous [11] |
| F | 12 | Y | Proximal | N | ND | R410W Homozygous [12] |
| M | 17 | Y | Proximal/axial/distal/neck | Y | worse | P59Q Homozygous |
M，male; F，female; Y，yes; ND，no date; N, no.