Affiliation: Maastricht University
Country: The Netherlands
- Influence of mutation type on clinical expression of Leber hereditary optic neuropathyLiesbeth Spruijt
Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands
Am J Ophthalmol 141:676-82. 2006..The prevalence of LHON in the Dutch population was determined...
- Founder mutations among the DutchMaurice P A Zeegers
Department of Epidemiology, Maastricht University, PO Box 616, 6200 MD, Maastricht, The Netherlands
Eur J Hum Genet 12:591-600. 2004..These observations demonstrate the opportunity for gene discovery for other diseases and traits in the Netherlands...
- A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystoniaLiesbeth Spruijt
Department of Genetics and Cell Biology, University of Maastricht, PO Box 616, 6200 MD Maastricht, The Netherlands
Arch Neurol 64:890-3. 2007..To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia...
- Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathyNeil Howell
MitoKor, San Diego, CA 92121, USA
Am J Hum Genet 72:1460-9. 2003..Finally, analysis of the mtDNA sequences from those pedigrees that did not carry classic LHON mutations suggested candidate pathogenic mutations at nts 9804, 13051, and 14325...
- Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorderGavin Hudson
Mitochondrial Research Group, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, United Kingdom
Am J Hum Genet 77:1086-91. 2005..This effect is independent of the mtDNA genetic background and explains the variable penetrance and sex bias that characterizes this disorder...
- Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup backgroundGavin Hudson
Mitochondrial Research Group, Department of Ophthalmology and Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK
Am J Hum Genet 81:228-33. 2007..Substitutions on MTCYB provide an explanation for these findings, which demonstrate that common genetic variants have a marked effect on the expression of an ostensibly monogenic mtDNA disorder...