A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 MutationÇiğdem Seher Kasapkara1, Leyla Tümer1, Nadia Zanetti2, Fatih Ezgü1, Eleonora Lamantea2, Massimo Zeviani31Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey
2Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy
3Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy; Medical Research Council, Mitochondrial Biology Unit, Cambridge, United Kingdom
Keywords: Myopathy, Lactic acidosis, Sideroblastic anemia
PUS1 Geninde Yeni Mutasyon Saptanan Miyopati, Laktik Asidoz, Sideroblastik Anemi (MLASA) OlgusuÇiğdem Seher Kasapkara1, Leyla Tümer1, Nadia Zanetti2, Fatih Ezgü1, Eleonora Lamantea2, Massimo Zeviani31Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey
2Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy
3Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy; Medical Research Council, Mitochondrial Biology Unit, Cambridge, United Kingdom
Anahtar Kelimeler: Miyopati, Laktik asidoz, Sideroblastik anemi
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, Fatih Ezgü, Eleonora Lamantea, Massimo Zeviani. A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation. Turk J Hematol. 2017; 34(4): 376-377
Corresponding Author: Çiğdem Seher Kasapkara, Türkiye |
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