Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

Lignende værker

• Treatable Leigh-like encephalopathy presenting in adolescence
  af: Fassone, Elisa, et al.
  Udgivet: (2013)
• TRNT1 deficiency: clinical, biochemical and molecular genetic features
  af: Wedatilake, Yehani, et al.
  Udgivet: (2016)
• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases
  af: Maas, Roeltje R., et al.
  Udgivet: (2017)
• Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission
  af: Shahni, Rojeen, et al.
  Udgivet: (2015)
• Tubular aggregate myopathy with abnormal pupils and skeletal deformities
  af: Jacques, T, et al.
  Udgivet: (2002)