Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: Identification of a novel PANK2 gene mutation
β Scribed by Yih-Ru Wu; Chiung-Mei Chen; Chih-Ying Chao; Ron-Kuo Lyu; Guey-Jen Lee-Chen
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 302 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27βyearβold male Chinese patient with atypical pantothenate kinaseβassociated neurodegeneration (PKAN), formerly HallervordenβSpatz syndrome. Automated DNA sequence analyses revealed compound hete
We identified a novel mutation (867delA) in the glucose-6-phosphatase gene of two siblings with glycogen storage disease type Ia. Although both siblings share the same mutations, their phenotype regarding adult height and hepatomegaly differs. In glycogen storage disease type Ia, substantial heterog