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Identification of novel mutations in five patients with mitochondrial encephalomyopathy
Authors:Lucia Valente  Daniela Piga  Eleonora Lamantea  Graziella Uziel  Anna Zani  Lucia Morandi  Antonella Spinazzola  Valeria Tiranti
Institution:a Unit of Molecular Neurogenetics - Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, IRCCS Foundation Neurological Institute “C. Besta”, Milan, Italy
b Unit of Child Neurology, IRCCS Foundation Neurological Institute “C. Besta”, Milan, Italy
c Unit of Neuromuscular Diseases, IRCCS Foundation Neurological Institute “C. Besta”, Milan, Italy
d Unit of Neuroradiology, IRCCS Foundation Neurological Institute “C. Besta”, Milan, Italy
Abstract:
Keywords:Mitochondrial DNA  Respiratory chain complex deficiency  mtDNA Sequence analysis  mtDNA mutation
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