Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”
Author
Source
Case Reports in Neurological Medicine
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-2, 2 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-02
Country of Publication
Egypt
No. of Pages
2
Main Subjects
Abstract EN
With interest, we read the article by Montano et al.
about a 42-year-old Italian female with ptosis, ophthalmoparesis, dysphagia, exercise intolerance, and myalgias [1].
The phenotype was attributed to the compound heterozygous mutations c.462T>A and c.707 + 2T>G in the DGUOK gene secondarily causing multiple mtDNA deletions [1].
We have the following comments and concerns.
American Psychological Association (APA)
Finsterer, Josef. 2020. Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”. Case Reports in Neurological Medicine،Vol. 2020, no. 2020, pp.1-2.
https://search.emarefa.net/detail/BIM-1148919
Modern Language Association (MLA)
Finsterer, Josef. Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”. Case Reports in Neurological Medicine No. 2020 (2020), pp.1-2.
https://search.emarefa.net/detail/BIM-1148919
American Medical Association (AMA)
Finsterer, Josef. Comment on “CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions”. Case Reports in Neurological Medicine. 2020. Vol. 2020, no. 2020, pp.1-2.
https://search.emarefa.net/detail/BIM-1148919
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1148919
