A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

Eitemau Tebyg

• A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy
  gan: Wang, Haicui, et al.
  Cyhoeddwyd: (2018)
• Novel SPEG variant cause centronuclear myopathy in China
  gan: Tang, Jia, et al.
  Cyhoeddwyd: (2019)
• SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy
  gan: Agrawal, Pankaj B., et al.
  Cyhoeddwyd: (2014)
• Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene
  gan: Wunderlich, Gilbert, et al.
  Cyhoeddwyd: (2018)
• Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy
  gan: Dafsari, Hormos Salimi, et al.
  Cyhoeddwyd: (2019)