CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions
Joint Authors
Simoncini, C.
Montano, V.
Calì, Cassi L.
Legati, A.
Mancuso, Michelangelo
Siciliano, Gabriele
Source
Case Reports in Neurological Medicine
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-03-06
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Montano, V.& Simoncini, C.& Calì, Cassi L.& Legati, A.& Siciliano, Gabriele& Mancuso, Michelangelo. 2019. CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. Case Reports in Neurological Medicine،Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1141333
Modern Language Association (MLA)
Montano, V.…[et al.]. CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. Case Reports in Neurological Medicine No. 2019 (2019), pp.1-4.
https://search.emarefa.net/detail/BIM-1141333
American Medical Association (AMA)
Montano, V.& Simoncini, C.& Calì, Cassi L.& Legati, A.& Siciliano, Gabriele& Mancuso, Michelangelo. CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. Case Reports in Neurological Medicine. 2019. Vol. 2019, no. 2019, pp.1-4.
https://search.emarefa.net/detail/BIM-1141333
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1141333