August 21, 2025ChildrenOpen Access

Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience

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Discussion

Retrospective cohort study highlights genetic variability and clinical characteristics in mitochondrial disorders.

Mitochondrial disorders show significant genetic variability, impacting clinical presentations in patients.
Of 116 patients analyzed, 34.5% have died, predominantly from cardiopulmonary arrest, emphasizing serious health risks.
Whole Exome Sequencing was used in 56.9% for diagnosis, with nuclear and mitochondrial gene types showing differing age distributions.
Highlights the necessity of genetic studies due to varying clinical outcomes, especially regarding diagnostic delay.

Almuqbil et al. (2025) studied this question.

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August 21, 2025ChildrenOpen Access

View Full Paper

Ask AI

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Authors

Retrospective cohort study highlights genetic variability and clinical characteristics in mitochondrial disorders.

Mitochondrial disorders show significant genetic variability, impacting clinical presentations in patients.
Of 116 patients analyzed, 34.5% have died, predominantly from cardiopulmonary arrest, emphasizing serious health risks.
Whole Exome Sequencing was used in 56.9% for diagnosis, with nuclear and mitochondrial gene types showing differing age distributions.
Highlights the necessity of genetic studies due to varying clinical outcomes, especially regarding diagnostic delay.

Almuqbil et al. (2025) studied this question.

View Full Paper

Ask AI

Bookmark