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Article

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

International journal of molecular sciences - 22 Jul 2021

Braun Frederik, Hentschel Andreas, Sickmann Albert, Marteau Theodore, Hertel Swantje, Förster Fabian, Prokisch Holger, Wagner Matias, Wortmann Saskia, Della Marina Adela, Kölbel Heike, Roos Andreas, Schara-Schmidt Ulrike

Abstract excerpt

Mutations in the SPATA5 gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While SPATA5 is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge about the associated muscular and molecular pathology. This study reports on a comprehensive workup of muscular pathology, including proteomic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34360601
DOI: 10.3390/ijms22157835
PMCID: PMC8345956

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