Figure 5.

Correlation between the c.1582G>A (p.Glu528Lys) Mutation and Clinical Features

The clinical characteristics of NEM are shown for the two groups of affected individuals (32 total), either with the c.1582G>A (p.Glu528Lys) mutation (as group A) or without it (as group G). The numbers of total affected individuals with clinical records regarding either the presence or the absence of each characteristic are indicated below the bars, and the numbers of affected individuals in each group are indicated above the respective bars. Labels on the x axis are as follows: prenatal symptoms, individuals demonstrating either fetal akinesia or hypokinesia, polyhydramnios, or fetal edema or effusion; ventilator required, individuals with respiratory failure requiring ventilation; artificial feeding, dysphagia-affected persons requiring tube feeding or gastrostomy; ophthalmoparesis, individuals with ophthalmoparesis along with facial weakness; muscle weakness, individuals with the most severe form of muscle weakness and demonstrating no antigravitory movement; and deceased, individuals who were deceased at the time of study. Asterisks indicate that statistical significance was observed.