𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel gene mutation in PANK2 in a patient with an atypical form of pantothenate kinase-associated neurodegeneration

✍ Scribed by Pérez-González, E.A.; Chacón-Camacho, O.F.; Arteaga-Vázquez, J.; Zenteno, J.C.; Mutchinick, O.M.

Book ID
123548561
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
822 KB
Volume
56
Category
Article
ISSN
1769-7212

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel compound heterozygous mutations in
Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration
✍ Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Sha 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 81 KB

## Abstract We investigated the presence of mutations in the pantothenate kinase (__PANK2__) gene in a 27‐year‐old male Chinese patient with atypical pantothenate kinase‐associated neurodegeneration (PKAN), formerly Hallervorden‐Spatz syndrome. Automated DNA sequence analyses revealed compound hete

Pantothenate kinase-associated neurodege
Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an Argentinean young woman
✍ Emilia Gatto; Jose L. Etcheverry; Daniela P. Converso; Carla Bidinost; Alberto R 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 903 KB

## 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