Multiple Mitochondrial Dysfunction Syndrome Type 3: A Likely Pathogenic Homozygous Variant Affecting a Patient of Cuban Descent and Literature Review

Multiple mitochondrial dysfunction syndrome type 3 (MMDS3) is a rare mitochondrial leukoencephalopathy caused by biallelic pathogenic variants in IBA57. Here, we describe a homozygous variant in IBA57, (NM_001010867.2): c.310G>T (p.Gly104Cys), in a 2-month-old infant of Cuban descent who presente...

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Detalles Bibliográficos
Autores principales: Lang, Steven H., Camponeschi, Francesca, de Joya, Evan, Borjas-Mendoza, Paulo, Tekin, Mustafa, Thorson, Willa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690653/
https://www.ncbi.nlm.nih.gov/pubmed/36360281
http://dx.doi.org/10.3390/genes13112044

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690653/
https://www.ncbi.nlm.nih.gov/pubmed/36360281
http://dx.doi.org/10.3390/genes13112044

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