Fig. 1

Clinical representation. a Pedigree and clinical features of posterior predominant lissencephaly and SBH caused by BICD2 nonsense mutation. b The brain MRI scans showed no obvious brainstem or cerebellar atrophy and preserved corpus callosum. c Electromyography findings demonstrated predominant myogenic changes in lower limbs and neurogenic pattern in upper limbs. d Chromatography confirmed de novo mutation of BICD2 gene. e The three coiled-coil (CC) domains were illustrated, and the truncated mutation of the proband affects the C-terminal end of CC3 domain