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

Kasapkara, Çiğdem Seher; Tümer, Leyla; Zanetti, Nadia; Ezgü, Fatih; Lamantea, Eleonora; Zeviani, Massimo

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

Anahtar Kelimeler: Miyopati, Laktik asidoz, Sideroblastik anemi

Corresponding Author: Çiğdem Seher Kasapkara, Türkiye
Manuscript Language: English

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