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Title:

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Document type:
Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Author(s):
Horvath, R; Hudson, G; Ferrari, G; Fütterer, N; Ahola, S; Lamantea, E; Prokisch, H; Lochmüller, H; McFarland, R; Ramesh, V; Klopstock, T; Freisinger, P; Salvi, F; Mayr, JA; Santer, R; Tesarova, M; Zeman, J; Udd, B; Taylor, RW; Turnbull, D; Hanna, M; Fialho, D; Suomalainen, A; Zeviani, M; Chinnery, PF
Abstract:
Mutations in the gene coding for the catalytic subunit of the mitochondrial DNA (mtDNA) polymerase gamma (POLG1) have recently been described in patients with diverse clinical presentations, revealing a complex relationship between genotype and phenotype in patients and their families. POLG1 was sequenced in patients from different European diagnostic and research centres to define the phenotypic spectrum and advance understanding of the recurrence risks. Mutations were identified in 38 cases, w...     »
Journal title abbreviation:
Brain
Year:
2006
Journal volume:
129
Journal issue:
Pt 7
Pages contribution:
1674-84
Language:
eng
Fulltext / DOI:
doi:10.1093/brain/awl088
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/16621917
Print-ISSN:
0006-8950
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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