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Patrick F. Chinnery - One of the best experts on this subject based on the ideXlab platform.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:Objective To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Design Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 ( PEO1 ), adenine nucleotide translocator 1 ( ANT1 , and polymerase γ-1 ( POLG1 genes. Results We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase γ. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Conclusion Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase γ.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase gamma-1 (POLG1) genes. We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase gamma. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.
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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive External Ophthalmoplegia (PEO).
Neurology, 2003Co-Authors: Alessandro Agostino, Andrew M. Schaefer, Douglass M. Turnbull, Lorella Valletta, Patrick F. Chinnery, Gianfrancesco Ferrari, Franco Carrara, Robert W. Taylor, Valeria Tiranti, Massimo ZevianiAbstract:To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive External Ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive External Ophthalmoplegia with multiple mtDNA deletions.
Douglass M. Turnbull - One of the best experts on this subject based on the ideXlab platform.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase gamma-1 (POLG1) genes. We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase gamma. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:Objective To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Design Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 ( PEO1 ), adenine nucleotide translocator 1 ( ANT1 , and polymerase γ-1 ( POLG1 genes. Results We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase γ. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Conclusion Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase γ.
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Ocular motility findings in chronic progressive External Ophthalmoplegia.
Eye (London England), 2004Co-Authors: C. Richardson, T Smith, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. GriffithsAbstract:To characterise the ocular motility features of chronic progressive External Ophthalmoplegia by quantitative and semiquantitative means. To assess the prevalence of diplopia and the binocular adaptations to nonaligned visual axes. We studied 25 patients with chronic progressive External Ophthalmoplegia. In each case muscle biopsies were consistent with mitochondrial myopathy. All patients underwent cover test in the primary position, assessment of binocular status, and measurement of uniocular fields of fixation using the Goldmann perimeter. A total of 23 (92%) patients had an exo-deviation, with six (26%) of those having an associated vertical deviation: 12 patients were binocular. Of the 13 patients with a manifest deviation seven had diplopia and six had suppression. Of all paired extra-ocular muscles (EOM), 68% had symmetry of movement within 5° of each other. Almost all patients had an exo-deviation. Diplopia was more common than expected. The majority of patients had symmetry of EOM limitation.
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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive External Ophthalmoplegia (PEO).
Neurology, 2003Co-Authors: Alessandro Agostino, Andrew M. Schaefer, Douglass M. Turnbull, Lorella Valletta, Patrick F. Chinnery, Gianfrancesco Ferrari, Franco Carrara, Robert W. Taylor, Valeria Tiranti, Massimo ZevianiAbstract:To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive External Ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive External Ophthalmoplegia with multiple mtDNA deletions.
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A novel Twinkle gene mutation in autosomal dominant progressive External Ophthalmoplegia.
Neuromuscular disorders : NMD, 2003Co-Authors: Marcus Deschauer, Douglass M. Turnbull, Stephan Zierz, Reinhard Kiefer, Emma L Blakely, Robert W. TaylorAbstract:Autosomal dominant progressive External Ophthalmoplegia is a common neurological presentation of mitochondrial disease and is characterised by multiple deletions of mitochondrial DNA in muscle. We describe a family with autosomal dominant progressive External Ophthalmoplegia caused by a novel heterozygous A to C transversion at nucleotide 956 of the Twinkle gene. The deltoid muscle biopsy of the index case revealed sparse respiratory deficient cells. Multiple mitochondrial DNA deletions were clearly evident in the index case by both long-range and real-time polymerase chain reaction assays but not by Southern blotting, highlighting the diagnostic difficulties associated with characterising patients with multiple mitochondrial DNA deletions.
Robert W. Taylor - One of the best experts on this subject based on the ideXlab platform.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase gamma-1 (POLG1) genes. We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase gamma. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:Objective To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Design Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 ( PEO1 ), adenine nucleotide translocator 1 ( ANT1 , and polymerase γ-1 ( POLG1 genes. Results We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase γ. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Conclusion Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase γ.
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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive External Ophthalmoplegia (PEO).
Neurology, 2003Co-Authors: Alessandro Agostino, Andrew M. Schaefer, Douglass M. Turnbull, Lorella Valletta, Patrick F. Chinnery, Gianfrancesco Ferrari, Franco Carrara, Robert W. Taylor, Valeria Tiranti, Massimo ZevianiAbstract:To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive External Ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive External Ophthalmoplegia with multiple mtDNA deletions.
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A novel Twinkle gene mutation in autosomal dominant progressive External Ophthalmoplegia.
Neuromuscular disorders : NMD, 2003Co-Authors: Marcus Deschauer, Douglass M. Turnbull, Stephan Zierz, Reinhard Kiefer, Emma L Blakely, Robert W. TaylorAbstract:Autosomal dominant progressive External Ophthalmoplegia is a common neurological presentation of mitochondrial disease and is characterised by multiple deletions of mitochondrial DNA in muscle. We describe a family with autosomal dominant progressive External Ophthalmoplegia caused by a novel heterozygous A to C transversion at nucleotide 956 of the Twinkle gene. The deltoid muscle biopsy of the index case revealed sparse respiratory deficient cells. Multiple mitochondrial DNA deletions were clearly evident in the index case by both long-range and real-time polymerase chain reaction assays but not by Southern blotting, highlighting the diagnostic difficulties associated with characterising patients with multiple mitochondrial DNA deletions.
Andrew M. Schaefer - One of the best experts on this subject based on the ideXlab platform.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase gamma-1 (POLG1) genes. We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase gamma. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:Objective To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Design Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 ( PEO1 ), adenine nucleotide translocator 1 ( ANT1 , and polymerase γ-1 ( POLG1 genes. Results We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase γ. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Conclusion Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase γ.
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Ocular motility findings in chronic progressive External Ophthalmoplegia.
Eye (London England), 2004Co-Authors: C. Richardson, T Smith, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. GriffithsAbstract:To characterise the ocular motility features of chronic progressive External Ophthalmoplegia by quantitative and semiquantitative means. To assess the prevalence of diplopia and the binocular adaptations to nonaligned visual axes. We studied 25 patients with chronic progressive External Ophthalmoplegia. In each case muscle biopsies were consistent with mitochondrial myopathy. All patients underwent cover test in the primary position, assessment of binocular status, and measurement of uniocular fields of fixation using the Goldmann perimeter. A total of 23 (92%) patients had an exo-deviation, with six (26%) of those having an associated vertical deviation: 12 patients were binocular. Of the 13 patients with a manifest deviation seven had diplopia and six had suppression. Of all paired extra-ocular muscles (EOM), 68% had symmetry of movement within 5° of each other. Almost all patients had an exo-deviation. Diplopia was more common than expected. The majority of patients had symmetry of EOM limitation.
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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive External Ophthalmoplegia (PEO).
Neurology, 2003Co-Authors: Alessandro Agostino, Andrew M. Schaefer, Douglass M. Turnbull, Lorella Valletta, Patrick F. Chinnery, Gianfrancesco Ferrari, Franco Carrara, Robert W. Taylor, Valeria Tiranti, Massimo ZevianiAbstract:To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive External Ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were screened. Mutations in ANT1 were found in one patient, in Twinkle in two patients, and in POLG1 in seven patients. Irrespective of the inheritance mode, screening of these genes should be performed in all patients with progressive External Ophthalmoplegia with multiple mtDNA deletions.
Philip G. Griffiths - One of the best experts on this subject based on the ideXlab platform.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:Objective To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Design Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 ( PEO1 ), adenine nucleotide translocator 1 ( ANT1 , and polymerase γ-1 ( POLG1 genes. Results We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase γ. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Conclusion Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase γ.
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Mutation of the Linker Region of the Polymerase γ-1 (POLG1Gene Associated With Progressive External Ophthalmoplegia and Parkinsonism
Archives of neurology, 2007Co-Authors: Gavin Hudson, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. Griffiths, Robert W. Taylor, Watcharee Tiangyou, Andrew Gibson, Graham S Venables, David J. Burn, Patrick F. ChinneryAbstract:To define the molecular basis of the autosomal dominant progressive External Ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder. Microsatellite analysis and screening of the progressive External Ophthalmoplegia 1 (PEO1), adenine nucleotide translocator 1 (ANT1), and polymerase gamma-1 (POLG1) genes. We identified 3 novel heterozygous POLG1 substitutions in the same family. Autosomal dominant progressive External Ophthalmoplegia segregated with 1532G>A in exon 8 and an intronic variant c.2070 + 158G>A in cis. The one patient with parkinsonism had an additional heterozygous substitution in exon 7 in trans (1389G>T). Both coding region mutations were predicted to alter conserved amino acids in the linker region of polymerase gamma. None of the substitutions were found in 192 ethnically matched control chromosomes, 108 patients with progressive External Ophthalmoplegia, nor 140 cases of sporadic idiopathic Parkinson disease. Both autosomal dominant progressive External Ophthalmoplegia and parkinsonism can because caused by mutations that directly affect the polymerase domain of polymerase gamma.
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Ocular motility findings in chronic progressive External Ophthalmoplegia.
Eye (London England), 2004Co-Authors: C. Richardson, T Smith, Andrew M. Schaefer, Douglass M. Turnbull, Philip G. GriffithsAbstract:To characterise the ocular motility features of chronic progressive External Ophthalmoplegia by quantitative and semiquantitative means. To assess the prevalence of diplopia and the binocular adaptations to nonaligned visual axes. We studied 25 patients with chronic progressive External Ophthalmoplegia. In each case muscle biopsies were consistent with mitochondrial myopathy. All patients underwent cover test in the primary position, assessment of binocular status, and measurement of uniocular fields of fixation using the Goldmann perimeter. A total of 23 (92%) patients had an exo-deviation, with six (26%) of those having an associated vertical deviation: 12 patients were binocular. Of the 13 patients with a manifest deviation seven had diplopia and six had suppression. Of all paired extra-ocular muscles (EOM), 68% had symmetry of movement within 5° of each other. Almost all patients had an exo-deviation. Diplopia was more common than expected. The majority of patients had symmetry of EOM limitation.
