BICD2 and proximal spinal muscular atrophy: Variants in the BICD2 gene have been linked to a non-progressive autosomal dominant and progressive autosomal dominant form of spinal muscular atrophy due to heterozygous missense variants (OMIM# 615290) and more severe congenital spinal muscular atrophy due to heterozygous de novo missense variants (OMIM# 618291) [13,14,15,16,17].