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A patient with two ...
A patient with two mitochondrial DNA mutations causing PEO and LHON.
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- Melberg, Atle (author)
- Uppsala universitet,Institutionen för neurovetenskap,neurologi
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- Moslemi, Ali-Reza (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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Palm, Oscar (author)
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- Raininko, Raili (author)
- Uppsala universitet,Enheten för radiologi
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- Stålberg, Erik (author)
- Uppsala universitet,Institutionen för neurovetenskap,neurofysiologi
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- Oldfors, Anders, 1951 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för patologi,Institute of Biomedicine, Department of Pathology
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(creator_code:org_t)
- Elsevier BV, 2009
- 2009
- English.
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In: European journal of medical genetics. - : Elsevier BV. - 1878-0849 .- 1769-7212. ; 52:1, s. 47-8
- Related links:
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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Abstract
Subject headings
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- We report a 22-year-old man with PEO and optic atrophy. PEO developed before the onset of optic atrophy. The patient showed mitochondrial myopathy with cytochrome c oxidase deficient fibers. In skeletal muscle the patient was homoplasmic for the mtDNA G11778A Leber hereditary optic neuropathy (LHON) mutation and heteroplasmic for the mtDNA 5 kb "common" deletion mutation. In blood only the homoplasmic LHON mutation was identified. The occurrence of two pathogenic mtDNA mutations is exceedingly rare. The clinical findings in this patient indicate that the combination of the two mtDNA mutations resulted in the expected combined phenotype since the mtDNA deletion mutation accounted for the PEO and the mtDNA G11778A point mutation for the optic atrophy.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Cell- och molekylärbiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Cell and Molecular Biology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Keyword
- DNA
- Mitochondrial
- genetics
- Electron Transport Complex IV
- genetics
- Humans
- Male
- Mitochondrial Myopathies
- genetics
- Mutation
- Optic Atrophy
- Hereditary
- Leber
- genetics
- Point Mutation
- Sequence Deletion
- Young Adult
- progressive external ophthalmoplegia (PEO)
- Neurology
- Neurology
Publication and Content Type
- ref (subject category)
- art (subject category)
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