Fig. 3

Genotype–phenotype correlation in CHKB-mutated patients. A Scheme of CHKB gene (above) and the encoded choline kinase beta (bottom). Mutations identified in MCMD patients are indicated in red (group 1: non-sense/frameshift mutations), blue (group 2: missense/in-frame mutations) or black (mutations disclosed in our proband). B Distribution of age at onset (in years) in MCMD patients. C Relative comparison of best motor achievements in MCMD patients stratified according to genotype. D Prevalence of intellectual disability in MCMD patients stratified according to genotype. E Prevalence of heart disease (mainly dilated cardiomyopathy) in MCMD patients stratified according to genotype