Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy

Eitemau Tebyg

• Congenital Generalized Lipodystrophy, Type 4 (CGL4) Associated with Myopathy due to Novel PTRF Mutations
  gan: Shastry, Savitha, et al.
  Cyhoeddwyd: (2010)
• A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy
  gan: Tavian, Daniela, et al.
  Cyhoeddwyd: (2019)
• Familial adult-onset Pompe disease associated with unusual clinical and histological features
  gan: MAGGI, LORENZO, et al.
  Cyhoeddwyd: (2013)
• Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
  gan: Zanolini, Alice, et al.
  Cyhoeddwyd: (2016)
• Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
  gan: Hayashi, Yukiko K., et al.
  Cyhoeddwyd: (2009)