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Mitochondrial myopa...
Mitochondrial myopathy with exercise intolerance and retinal dystrophy in a sporadic patient with a G583A mutation in the mt tRNA(phe) gene
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- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden
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- Kollberg, Gittan, 1963 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden
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- Moslemi, Ali-Reza (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden
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- Tulinius, Mar, 1953 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Pediatrics, Sahlgrenska University Hospital, Göteborg, Sweden
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- Holme, Elisabeth, 1947 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine,Department of Clinical Chemistry, Sahlgrenska University Hospital, Göteborg, Sweden
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- Grönlund, Marita Andersson, 1959 (author)
- Department of Pediatric Ophthalmology, Sahlgrenska University Hospital, Göteborg, Sweden
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- Andersson, S (author)
- Department of Pediatric Ophthalmology, Sahlgrenska University Hospital, Göteborg, Sweden
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- Oldfors, Anders, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology,Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden
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(creator_code:org_t)
- Elsevier BV, 2006
- 2006
- English.
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In: Neuromuscular disorders : NMD. - : Elsevier BV. - 0960-8966 .- 1873-2364. ; 16:8, s. 504-6
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Abstract
Subject headings
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- We describe a second patient with the 583G>A mutation in the tRNA(phe) gene of mitochondrial DNA (mtDNA). This 17-year-old girl had a mitochondrial myopathy with exercise intolerance and an asymptomatic retinopathy. Muscle investigations showed occasional ragged red fibers, 30% cytochrome c oxidase (COX)-negative fibers, and reduced activities of complex I+IV in the respiratory chain. The mutation was heteroplasmic (79%) in muscle but undetectable in other tissues. Analysis of single muscle fibers revealed a significantly higher level of mutated mtDNA in COX-negative fibers. Our study indicates that the 583G>A mutation is pathogenic and expands the clinical spectrum of this mutation.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oftalmologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Ophthalmology (hsv//eng)
Keyword
- Adolescent
- DNA Mutational Analysis
- Electron Transport
- genetics
- Electron Transport Complex IV
- metabolism
- Exercise Tolerance
- genetics
- Female
- Humans
- Mitochondrial Myopathies
- complications
- genetics
- physiopathology
- Muscle Fibers
- metabolism
- pathology
- Muscle Weakness
- genetics
- physiopathology
- Mutation
- genetics
- RNA
- genetics
- RNA
- Transfer
- Phe
- genetics
- Retina
- pathology
- physiopathology
- Retinal Artery
- pathology
- physiopathology
- Retinal Diseases
- complications
- genetics
- physiopathology
- Mitochondrial
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Darin, Niklas, 1 ...
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Kollberg, Gittan ...
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Moslemi, Ali-Rez ...
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Tulinius, Mar, 1 ...
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Holme, Elisabeth ...
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Grönlund, Marita ...
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Andersson, S
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Oldfors, Anders, ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Ophthalmology
- Articles in the publication
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Neuromuscular di ...
- By the university
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University of Gothenburg
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Örebro University