Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family
โ Scribed by Tanteles, George A.; Spanou-Aristidou, Elena; Antoniou, Chloe; Christophidou-Anastasiadou, Violetta; Kleopa, Kleopas A.
- Book ID
- 122322395
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 487 KB
- Volume
- 340
- Category
- Article
- ISSN
- 0022-510X
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## 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
## Video Wilson's disease (WD) and hypoceruloplasminemia are both autosomal recessive disorders associated with low-serum ceruloplasmin that can cause neurological symptoms. WD is due to a defect in copper transport and WD patients with neurological symptoms typically have copper deposits in the c