title: LGMD phenotype due to a new gene and dysferlinopathy investigated by next-generation sequencing.
abstract: In this issue of Neurology® Genetics, Endo et al.(1) report 3 cases of limb-girdle muscular dystrophy (LGMD) phenotype with mental retardation or hyperCKemia found by next-generation sequencing (NGS) to have a variant in the POMGNT2 gene, which has so far been recognized only as causing congenital muscular dystrophy (CMD).
authors.affiliation: Neuromuscular Center, Fondazione San Camillo Hospital IRCCS, Lido Venice, Italy.
authors.forename: Corrado I
authors.initials: CI
authors.lastname: Angelini