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Publikováno v:
Acta Oto-Laryngologica Case Reports. 1:90-97
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by the absence or deficiency of PANK 2 gene located on the chromosome 20p13-p12.3. This is a motor disorder of extrapyramidal type with dystonia, rigidi