Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy

摘要: Abstract Sarcoglycanopathies are a genetically heterogeneous group of autosomal recessive limb-girdle muscular dystrophies (LGMD) caused by mutations in sarcoglycan genes. We report Portuguese patient with very late-onset LGMD phenotype, whose muscle biopsy and immunostaining, particular for α-sarcoglycan, were unrevealing. Muscle MRI showed predominant, bilateral symmetric involvement the tight muscles also, to lesser extent, posterior compartment lower legs muscles. Next generation sequencing (NGS) revealed known homozygous c.850C > T (p.Arg284Cys) mutation SGCA gene. Milder forms α-sarcoglycanopathies could be challenging diagnosis; particularly if histopathology α-sarcoglycan immunohistochemistry unhelpful. NGS plays crucial role not only aiding establishment definite diagnosis, but also expanding clinical presentations.