Article
TMEM70 deficiency: long-term outcome of 48 patients.
Journal of inherited metabolic disease - 1 May 2015
Magner Martin, Dvorakova Veronika, Tesarova Marketa, Mazurova Stella, Hansikova Hana, Zahorec Martin, Brennerova Katarina, Bzduch Vladimir, Spiegel Ronen, Horovitz Yoseph, Mandel Hanna, Eminoğlu Fatma Tuba, Mayr Johannes Adalbert, Koch Johannes, Martinelli Diego, Bertini Enrico, Konstantopoulou Vassiliki, Smet Joél, Rahman Shamima, Broomfield Alexander, Stojanović Vesna, Dionisi-Vici Carlo, van Coster Rudy, Morava Eva, Morava-Kozicz Eva, Sperl Wolfgang, Zeman Jiri, Honzik Tomas
Abstract excerpt
OBJECTIVES: TMEM70 deficiency is the most common nuclear-encoded defect affecting the ATP synthase. In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 patients with mutations in TMEM70. Eleven centers from eight European countri...
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