Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome

Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome

Abstract Background MEGDHEL is an autosomal recessive syndrome defined as 3‐MEthylGlutaconic aciduria (3‐MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh‐like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role i...

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Bibliographic Details
Main Authors: Sarah Snanoudj, Patrick Mordel, Quentin Dupas, Cécile Schanen, Alina Arion, Marion Gérard, Marie‐Hélène Read, Djamel Nait Rabah, Didier Goux, Françoise Chapon, Mickael Jokic, Stéphane Allouche
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
3‐MGA
cardiolipin metabolism
MEGDHEL
mitochondria
SERAC1
Online Access:https://doi.org/10.1002/mgg3.815

Internet

https://doi.org/10.1002/mgg3.815

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