A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations

A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations

Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several studies report that more than 50% of patients with suspected mitochondrial disease could have a non-mitochondrial disorder. Thus, only the iden...

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Bibliographic Details
Main Authors: Mounir Serag, Morgane Plutino, Perrine Charles, Jean-Philippe Azulay, Annabelle Chaussenot, Véronique Paquis-Flucklinger, Samira Ait-El-Mkadem Saadi, Cécile Rouzier
Format: Article
Language:English
Published: MDPI AG 2023-11-01
Series:Genes
Subjects:
WES
array-CGH
<i>SYNE1</i>
mitochondrial disorder
Online Access:https://www.mdpi.com/2073-4425/14/12/2154

Internet

https://www.mdpi.com/2073-4425/14/12/2154

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