Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.

Autors de IIS La Fe

• Juan Jesús Vílchez Padilla

  Autor

• 

  Teresa Sevilla Mantecón

  Autor

• Fernando Mayordomo Fernandez

  Autor

• Isabel Illa Sendra

  Autor

Autors aliens a IIS La Fe

• Gallano P
• Gallardo E
• Lasa A
• Rojas-García R
• Freixas A
• De Luna N
• Calafell F
• Baiget M

Abstract

Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy.