Mitochondrial disorders due to m.3243A>G not meeting diagnostic criteria for MELAS require comprehensive work-up-Reference-Cited by-同舟云学术

Mitochondrial disorders due to m.3243A>G not meeting diagnostic criteria for MELAS require comprehensive work-up

Published:2023-07-03 Issue:8 Volume:7 Page:
ISSN:2514-2119
Container-title:European Heart Journal - Case Reports
language:en
Short-container-title:

Author:

Finsterer Josef¹^ORCID,Mehri Sounira²^ORCID

Affiliation:

1. Neurology and Neurophysiology Centre , Postfach 20, 1180 Vienna , Austria

2. Biochemistry Laboratory, LR12ES05 ‘Nutrition-Functional Foods and Vascular Health’, Faculty of Medicine , Road Taher Hadded P.B 56, 5000 Monastir , Tunisia

Publisher

Oxford University Press (OUP)

Subject

Cardiology and Cardiovascular Medicine

Link

https://academic.oup.com/ehjcr/advance-article-pdf/doi/10.1093/ehjcr/ytad294/50790411/ytad294.pdf

Reference5 articles.

1. Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report;Lee;Eur Heart J Case Rep,2023

2. Melas: an original case and clinical criteria for diagnosis;Hirano;Neuromuscul Disord,1992

3. MELAS: a nationwide prospective cohort study of 96 patients in Japan;Yatsuga;Biochim Biophys Acta,2012

4. M.3243A>G carriers develop syndromic or non-syndromic multisystem phenotypes over time;Finsterer;CEN Case Rep,2021

5. Tissue- and cell-type-specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model;Hämäläinen;Proc Natl Acad Sci U S A,2013

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1. Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report;European Heart Journal - Case Reports;2023-08-01