Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

Mutations in the <i>SPATA5</i> gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While <i>SPATA5</i> is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only limited kno...

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Bibliographic Details
Main Authors: Frederik Braun, Andreas Hentschel, Albert Sickmann, Theodore Marteau, Swantje Hertel, Fabian Förster, Holger Prokisch, Matias Wagner, Saskia Wortmann, Adela Della Marina, Heike Kölbel, Andreas Roos, Ulrike Schara-Schmidt
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:International Journal of Molecular Sciences
Subjects:
EHLMRS
SPATA5
mitochondrial disorder
muscle proteomics
myopathology
Online Access:https://www.mdpi.com/1422-0067/22/15/7835

Internet

https://www.mdpi.com/1422-0067/22/15/7835

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