Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A

Antzeko izenburuak

• Clinical, histological, and genetic characterization of PYROXD1-related myopathy
  nork: Lornage, Xavière, et al.
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• A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy
  nork: Malfatti, Edoardo, et al.
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• Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation
  nork: Böhm, Johann, et al.
  Argitaratua: (2010)
• Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion
  nork: Vasli, Nasim, et al.
  Argitaratua: (2017)
• ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies
  nork: Garibaldi, Matteo, et al.
  Argitaratua: (2019)