Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of...

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Veröffentlicht in:	Nature genetics 2001-07, Vol.28 (3), p.211-212
Hauptverfasser:	Van Broeckhoven, Christine, Van Goethem, Gert, Dermaut, Bart, Löfgren, Ann, Martin, Jean-Jacques
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Agriculture Amino Acid Sequence Animal Genetics and Genomics Belgium Biological and medical sciences Biomedical and Life Sciences Biomedicine Biopsy brief-communication Cancer Research Chromosomes, Human, Pair 15 - genetics Classical genetics, quantitative genetics, hybrids Complications and side effects Diagnosis Disease DNA polymerase DNA Polymerase gamma DNA, Mitochondrial - genetics DNA-Directed DNA Polymerase - genetics Eye Families & family life Female Fundamental and applied biological sciences. Psychology Gene Function Gene mutations Genetic aspects Genetics of eukaryotes. Biological and molecular evolution Heterozygote Human Human Genetics Humans Lod Score Male Medical sciences Mitochondrial DNA Molecular Sequence Data mtDNA polymerase ^g Musculoskeletal system Mutation Mutation, Missense Oculomotor disorders Oculomotor paralysis Ophthalmology Ophthalmoplegia, Chronic Progressive External - enzymology Ophthalmoplegia, Chronic Progressive External - epidemiology Ophthalmoplegia, Chronic Progressive External - genetics Paralysis Pedigree Physiological aspects POLG gene Publishing Risk factors Sequence Deletion Sequence Homology, Amino Acid
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