Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene Deficiency-Reference-Cited by-同舟云学术

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Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene Deficiency

Published:2023-10-17 Issue:16 Volume:101 Page:723-727
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Morganroth Jennifer¹,Ljungberg Lovisa¹,Goldstein Amy¹,Kallish Staci¹^ORCID,Asher Stephanie B.¹,Quinn Colin¹^ORCID,Price Raymond S.¹^ORCID,Karam Chafic¹

Affiliation:

1. From the Department of Neurology (J.M., L.L., C.Q., R.S.P., C.K.), and Division of Translational Medicine and Human Genetics (A.G., S.K., S.B.A.), Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/WNL.0000000000207678

Reference13 articles.

1. Wang J, El-Hattab AW, Wong LJC. TK2-related mitochondrial DNA maintenance defect, myopathic form. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews. University of Washington, Seattle; 1993-2023. Accessed January 6, 2023. ncbi.nlm.nih.gov/books/NBK114628/?report=classic.

2. Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions

3. Late-onset thymidine kinase 2 deficiency: a review of 18 cases

4. Retrospective natural history of thymidine kinase 2 deficiency

5. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

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