Fukutin-related proteinopathy (LGMD-R9) is the most common of the dystroglycanopathies.3In the United Kingdom and Denmark, fukutin-related proteinopathy is one of the most frequent subtypes, with rates between 18% and 38%, whereas in North America, Italy and the Netherlands, the rate is between 6.7% and 9%.8, 9, 13, 15, 21This subtype also has lower rates in Brazil.11, 12In our cohort, the genetic analysis revealed the recurrence of the p.Leu276Ile variant in theFKRPgene. Here, FKTN is linked to neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan.