Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited

Sir, We thank Dr Erro and colleagues (2014) for their interest in our overview paper on the clinical and genotypic spectrum in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC; Hamilton et al. , 2014 a ). In our cohort, we found a more benign phenotype in 25 patients with the common c.745G > A mutation than in 16 patients with other mutations in TUBB4A , suggesting a relation between genotype …