Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations.

Introduction: Heterozygous BICD2 gene mutations cause a form of autosomal dominant spinal muscular atrophy with lower extremity predominance (SMALED).

Methods: We analyzed the BICD2 gene in a selected group of 25 index patients with neurogenic muscle atrophy.

Results: We identified 2 new BICD2 missense mutations, c.