The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.

Ítems similars

• A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3.
  per: Bouhouche, A, et al.
  Publicat: (1999)
• Recombination hot spot in a 3.2-kb region of the Charcot-Marie-Tooth type 1A repeat sequences: new tools for molecular diagnosis of hereditary neuropathy with liability to pressure palsies and of Charcot-Marie-Tooth type 1A. French CMT Collaborative Research Group.
  per: Lopes, J., et al.
  Publicat: (1996)
• Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease
  per: Lee, M, et al.
  Publicat: (2002)
• Pathogenesis of X-Linked Charcot-Marie-Tooth Disease: Differential Effects of Two Mutations in Connexin 32
  per: Abrams, Charles K., et al.
  Publicat: (2003)
• SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.
  per: Hanash, A, et al.
  Publicat: (1997)