ISSN: 1300-7777 E-ISSN: 1308-5263
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation [Turk J Hematol]
Turk J Hematol. 2017; 34(4): 376-377 | DOI: 10.4274/tjh.2017.0231  

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Çiğdem Seher Kasapkara1, Leyla Tümer1, Nadia Zanetti2, Fatih Ezgü1, Eleonora Lamantea2, Massimo Zeviani3
1Gazi 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) Olgusu

Çiğdem Seher Kasapkara1, Leyla Tümer1, Nadia Zanetti2, Fatih Ezgü1, Eleonora Lamantea2, Massimo Zeviani3
1Gazi 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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