Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration

Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings. We report a case of atypical PKAN presenting with generalized dystonia. Our patient...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Kim, Sung-Hyouk, Sung, Young-Hee, Park, Kee-Hyung, Lee, Yeung-Bae, Park, Hyeon-Mi, Shin, Dong Jin, Kim, Gu-Hwan
Format: Artigo
Langue:Inglês
Publié: The Korean Movement Disorder Society 2009
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4027700/
https://ncbi.nlm.nih.gov/pubmed/24868354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14802/jmd.09012
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