Publication:

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy (2005)

Author(s): Lucioli S, Giusti B, Mercuri E, Vanegas OC, Lucarini L, Pietroni V, Urtizberea A, Yaou RB, De Visser M, Van Der Kooi AJ, Bonnemann C, Iannaccone ST, Merlini L, Bushby K, Muntoni F, Bertini E, Chu M-L, Pepe G

      • Journal: Neurology
      • Volume: 64
      • Issue: 11
      • Pages: 1931-1937
      • Publisher: Lippincott Williams & Wilkins
      • Publication type: Article
      • Bibliographic status: Published
      Staff

      Professor Katherine Bushby
      Act. Res.Chair of Neuromuscular Genetics