,5 Though the compound heterozygous missense mutations in LAMA2 and the heterozygous missense mutation in FBN1 identified in this study are classified as variants of uncertain significance as per ACMG guidelines and have not been reported in patients with classic LAMA2-related muscular dystrophy or Marfan syndrome, their presence alongside TTN mutations may exacerbate the clinical manifestations observed in our patients. The gene discussed is LAMA2; the disease is muscular dystrophy.