A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation
Çiğdem Seher Kasapkara,
Leyla Tümer,
Nadia Zanetti,
Fatih Ezgü,
Eleonora Lamantea,
Massimo Zeviani
Affiliations
Çiğdem Seher Kasapkara
Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey
Leyla Tümer
Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey
Nadia Zanetti
Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy
Fatih Ezgü
Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey
Eleonora Lamantea
Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy
Massimo Zeviani
Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy; Medical Research Council, Mitochondrial Biology Unit, Cambridge, United Kingdom