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Document type:
journal article 
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 
Title:
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 
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 
Print-ISSN:
0006-8950 
TUM Institution:
Kinderklinik und Poliklinik