SLC3A2 and Congenital muscular dystrophy type 1A: Clinical symptoms are severe hypotonia, muscle weakness, and delayed motor milestones.1 Typically, the children do not achieve independent ambulation and respiratory failure is followed by death in the second or third decade of life.2, 3 MDC1A is caused by mutations in the LAMA2 gene, encoding the heavy chain of laminin-2.4 Muscle biopsies are characterized by muscle fiber necrosis, inflammation, apoptosis, and fibrosis.1, 2, 3, 5 Despite extensive advances in its diagnosis, MDC1A remains an incurable disease.2, 6