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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Hlavní autoři:	Sung-Hyouk Kim, Young-Hee Sung, Kee-Hyung Park, Yeung-Bae Lee, Hyeon-Mi Park, Dong Jin Shin, Gu-Hwan Kim
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Korean Movement Disorder Society 2009-05-01
Edice:	Journal of Movement Disorders
Témata:	Pantothenate kinase 2 Pantothenate kinase-associated neurodegeneration Dystonia
On-line přístup:	http://e-jmd.org/upload/jmd-2-1-45-12.pdf
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