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From clinical and biochemical to molecular genetic diagnosis of Wilson disease in Latvia

✍ Scribed by A. Krumina; J. Keiss; V. Sondore; A. Chernushenko; G. Cernevska; A. Zarina; I. Micule; L. Piekuse; M. Kreile; B. Lace; Z. Krumina; B. Rozentale

Book ID
110199633
Publisher
SP MAIK Nauka/Interperiodica
Year
2008
Tongue
English
Weight
199 KB
Volume
44
Category
Article
ISSN
1022-7954

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✍ Lee-Jun C. Wong; Robert K. Naviaux; Nicola Brunetti-Pierri; Qing Zhang; Eric S. πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 569 KB

Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults. They are responsible for a heterogeneous group of at least 6 major phenotypes of neurodegenerative disease that include: 1) childhood Myocerebrohepatopathy Spectrum dis