Novel Mutation in the PANK2 Gene Leads to Pantothenate Kinase-Associated Neurodegeneration in a Pakistani Family
โ Scribed by Danish Saleheen; Tuba Ali; Zarmeneh Aly; Bhojo Khealani; Philippe M. Frossard
- Book ID
- 116825186
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 210 KB
- Volume
- 37
- Category
- Article
- ISSN
- 0887-8994
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## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27โyearโold male Chinese patient with atypical pantothenate kinaseโassociated neurodegeneration (PKAN), formerly HallervordenโSpatz syndrome. Automated DNA sequence analyses revealed compound hete