A novel ISCA2 variant responsible for an early-onset neurodegenerative mitochondrial disorder: a case report of multiple mitochondrial dysfunctions syndrome 4

BACKGROUND: Multiple Mitochondrial Dysfunctions Syndrome 4 (MMDS4) is manifested as a result of ISCA2 mutations. ISCA2 is a vital component of 4Fe-4S clusters assembly machine. Therefore, in MMDS4 patients, deficient mitochondrial respiratory chain complexes I and II, Aconitase and Succinate dehydro...

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Detalles Bibliográficos
Autores principales: Eidi, Milad, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612116/
https://www.ncbi.nlm.nih.gov/pubmed/31279336
http://dx.doi.org/10.1186/s12883-019-1387-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612116/
https://www.ncbi.nlm.nih.gov/pubmed/31279336
http://dx.doi.org/10.1186/s12883-019-1387-2

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