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Title:

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

Document type:
Case Reports; Journal Article
Author(s):
Freisinger, P; Fütterer, N; Lankes, E; Gempel, K; Berger, TM; Spalinger, J; Hoerbe, A; Schwantes, C; Lindner, M; Santer, R; Burdelski, M; Schaefer, H; Setzer, B; Walker, UA; Horvath, R
Abstract:
BACKGROUND: Autosomal recessive mutations in deoxyguanosine kinase (DGUOK) have been identified in the hepatocerebral form of mitochondrial DNA (mtDNA) depletion syndrome. OBJECTIVES: To describe the clinical spectrum of DGUOK-related mtDNA depletion syndrome in 6 children and to summarize the literature. RESULTS: We identified pathogenic mutations in DGUOK in 6 children with the hepatocerebral form of mtDNA depletion syndrome. We describe the clinical, neuroradiologic, histologic, and genetic f...     »
Journal title abbreviation:
Arch Neurol
Year:
2006
Journal volume:
63
Journal issue:
8
Pages contribution:
1129-34
Language:
eng
Fulltext / DOI:
doi:10.1001/archneur.63.8.1129
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/16908739
Print-ISSN:
0003-9942
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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