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

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 a...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8345956/
https://www.ncbi.nlm.nih.gov/pubmed/34360601
http://dx.doi.org/10.3390/ijms22157835

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8345956/
https://www.ncbi.nlm.nih.gov/pubmed/34360601
http://dx.doi.org/10.3390/ijms22157835

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