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

Autor:	Sung-Hyouk Kim, Young-Hee Sung, Kee-Hyung Park, Yeung-Bae Lee, Hyeon-Mi Park, Dong Jin Shin, Gu-Hwan Kim
Jazyk:	angličtina
Rok vydání:	2009
Předmět:	Pantothenate kinase 2 Pantothenate kinase-associated neurodegeneration Dystonia Neurology. Diseases of the nervous system RC346-429
Zdroj:	Journal of Movement Disorders, Vol 2, Iss 1, Pp 45-47 (2009)
Druh dokumentu:	article
ISSN:	2005-940X 2093-4939
DOI:	10.14802/jmd.09012
Popis:	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 had compound heterozygous mutations in the PANK2 gene, including mutation in exon 3 (p.D268G) and exon 4 (p.R330P). To our knowledge, this patient is the first to have the p.R330P mutation and the second to have the p.D268G mutation.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/b4b83de8b0d5409ea3607d2e47d48bee Zobrazit plný text záznamu View record in DOAJ