Severe phenotype of a patient with autosomal recessive centronuclear myopathy due to a BIN1 mutation

Lignende værker

• Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
  af: Böhm, Johann, et al.
  Udgivet: (2010)
• A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
  af: Cabrera-Serrano, Macarena, et al.
  Udgivet: (2018)
• Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
  af: Ceyhan-Birsoy, Ozge, et al.
  Udgivet: (2013)
• Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy
  af: Böhm, Johann, et al.
  Udgivet: (2012)
• Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
  af: Ravenscroft, Gianina, et al.
  Udgivet: (2013)