CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions
The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion. Later, it has been shown that the mutations in the same gene may present with adult-onse...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2019/5918632 |
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| author | V. Montano C. Simoncini Cassi L. Calì A. Legati G. Siciliano M. Mancuso |
| author_facet | V. Montano C. Simoncini Cassi L. Calì A. Legati G. Siciliano M. Mancuso |
| author_sort | V. Montano |
| collection | DOAJ |
| description | The classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion. Later, it has been shown that the mutations in the same gene may present with adult-onset mitochondrial myopathy and mitochondrial DNA multiple deletions in skeletal muscle. Here we report the case of a 42-year-old Italian woman presenting with a chronic progressive external ophthalmoplegia and myopathy with mtDNA multiple deletions and the compound heterozygous c.462T>A (p.Asn154Lys) and c.707+2T>G pathogenic variants in DGUOK. |
| format | Article |
| id | doaj-art-3047f13c6241452eac238cc1cd34eabc |
| institution | Kabale University |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
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| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-3047f13c6241452eac238cc1cd34eabc2025-02-03T01:30:58ZengWileyCase Reports in Neurological Medicine2090-66682090-66762019-01-01201910.1155/2019/59186325918632CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple DeletionsV. Montano0C. Simoncini1Cassi L. Calì2A. Legati3G. Siciliano4M. Mancuso5Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyDepartment of Hand Surgery and Reconstructive Microsurgery, University of Pisa, Pisa, ItalyUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico “C. Besta”, Milan, ItalyDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyDepartment of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, ItalyThe classic features of deoxyguanosine kinase (DGUOK) deficiency are infantile onset hepatic failure with nystagmus and hypotonia; mitochondrial DNA studies on affected tissue reveal mitochondrial DNA depletion. Later, it has been shown that the mutations in the same gene may present with adult-onset mitochondrial myopathy and mitochondrial DNA multiple deletions in skeletal muscle. Here we report the case of a 42-year-old Italian woman presenting with a chronic progressive external ophthalmoplegia and myopathy with mtDNA multiple deletions and the compound heterozygous c.462T>A (p.Asn154Lys) and c.707+2T>G pathogenic variants in DGUOK.http://dx.doi.org/10.1155/2019/5918632 |
| spellingShingle | V. Montano C. Simoncini Cassi L. Calì A. Legati G. Siciliano M. Mancuso CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions Case Reports in Neurological Medicine |
| title | CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions |
| title_full | CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions |
| title_fullStr | CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions |
| title_full_unstemmed | CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions |
| title_short | CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions |
| title_sort | cpeo and mitochondrial myopathy in a patient with dguok compound heterozygous pathogenetic variant and mtdna multiple deletions |
| url | http://dx.doi.org/10.1155/2019/5918632 |
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