Atp synthase deficiency due to tmem70 mutation leads to ultrastructural mitochondrial degeneration and is amenable to treatment

HIGHLIGHTS

• who: Anne K. Braczynski and colleagues from the Edinger Institute, Institute of Neurology, Goethe University, Frankfurt am Main, Germany have published the article: ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment, in the Journal: (JOURNAL) of 17/04/2015
• what: The authors report on pathology and treatment of ATP synthase deficiency in four siblings. The authors provide a detailed pathological analysis of patients with a TMEM70 defect and report on the successful stabilisation of life-threatening metabolic crises by combined symptomatic and experimental anaplerotic therapy. The . . .
  

   

  

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