Mutations in the nebulin gene can cause severe congenital nemaline myopathy (2002)

Author(s): Bushby K; Wallgren-Pettersson C; Donner K; Sewry C; Bijlsma E; Lammens M; Uzielli MLG; Lapi E; Odent S; Akcoren Z; Topaloglu H; Pelin K

      • Date: 03-06-2002
      • Journal: Neuromuscular Disorders
      • Volume: 12
      • Issue: 7-8
      • Pages: 674-679
      • Publisher: Elsevier Ltd
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: nemaline (rod) myopathy congenital myopathy severe form nebulin mutations SKELETAL-MUSCLE CHROMOSOME 2Q SEQUENCE EXPRESSION ASSIGNMENT FAMILIES TPM3 SH3


      Professor Katherine Bushby
      Act. Res.Chair of Neuromuscular Genetics