Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A&gt;G and <i>CEL</i> gene mutations: A case report

This case highlights the genetic heterogeneity of monogenic diabetes and expands the known mutational spectrum. Comprehensive genetic testing is recommended to enhance diagnostic accuracy in cases of suspected monogenic diabetes.

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Publication Details

Journal
World Journal of Diabetes
Published
2025-12-12
DOI
https://doi.org/10.4239/wjd.v16.i12.113238
Primary Topic
Mitochondrial Function and Pathology
Type
article
Field-Weighted Citation Impact
0.00
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article

Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report

Yu-wei Jin, Zhiyi Wei, Ling Qin, X. Che et al.
World Journal of Diabetes
Mitochondrial Function and Pathology
article

Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report

Yu-wei Jin, Zhiyi Wei, Ling Qin, X. Che, Shuang Liu, Hairong Wang, Wei Gong
article en

Abstract

This case highlights the genetic heterogeneity of monogenic diabetes and expands the known mutational spectrum. Comprehensive genetic testing is recommended to enhance diagnostic accuracy in cases of suspected monogenic diabetes.

World Journal of DiabetesVol. 16(12)
Jilin University (CN), First Hospital of Jilin University (CN)
Openalex Percentile: Top 64%
Mitochondrial Function and Pathology
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