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

Abstract : 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 in the mitochondrial cardiolipin metabolism.
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https://hal-normandie-univ.archives-ouvertes.fr/hal-02268424
Contributor : Marion Gerard <>
Submitted on : Tuesday, August 20, 2019 - 9:55:00 PM
Last modification on : Wednesday, December 4, 2019 - 9:52:03 AM

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Sarah Snanoudj, Patrick Mordel, Quentin Dupas, Cécile Schanen, Alina Arion, et al.. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. Molecular Genetics & Genomic Medicine, Wiley Periodicals, Inc. 2019, 7 (8), pp.e815. ⟨10.1002/mgg3.815⟩. ⟨hal-02268424⟩

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