2002•Neuromuscular DisordersRequires access

Mutations in the nebulin gene can cause severe congenital nemaline myopathy

Carina Wallgren‐Pettersson, Kati Donner, Caroline A. Sewry, Emilia Bijlsma, Martin Lammens, Kate Bushby, Maria Luisa Giovannucci Uzielli, Elisabetta Lapi, Sylvie Odent, Zühal Akçören, Haluk Topaloğlu, Katarina Pelin

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Key concepts: Nebulin, Nemaline myopathy, Congenital myopathy, Arthrogryposis, Exon, Genetics, Mutation, Myopathy