1 research outputs found

    The p.Thr11Met mutation in c19orf12 is frequent among adult Turkish patients with MPAN

    No full text
    Introduction: Mutations in the C19orf12 gene cause mitochondrial membrane protein associated neurodegeneration (MPAN), an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA). A limited number of patients with C19orf12 mutations, particularly those with adult onset of symptoms, have been reported
    corecore