Mutations in this gene have been associated with LAMA2-related muscular dystrophy (LAMA2-RD), which is a neuromuscular disease characterized by muscle weakness, spinal rigidity and respiratory impairment (Bouman et al., 2023), as well as by delayed nerve conduction (Shorer et al., 1995) and deceased axon myelination (Brett et al., 1998; Previtali and Zambon, 2020). This evidence concerns the gene LAMA2 and neuromuscular disease.