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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Korean Movement Disorders Society
2009-05-01
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| Series: | Journal of Movement Disorders |
| Subjects: | |
| Online Access: | http://e-jmd.org/upload/jmd-2-1-45-12.pdf |