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: 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 <i>IBA57</i>. Here, we describe a homozygous variant in <i>IBA57</i>, (NM_001010867.2): c.310G>T (p.Gly104Cys), in a 2-month-ol...

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Bibliographic Details
Main Authors: Steven H. Lang, Francesca Camponeschi, Evan de Joya, Paulo Borjas-Mendoza, Mustafa Tekin, Willa Thorson
Format: Article
Language:English
Published: MDPI AG 2022-11-01
Series:Genes
Subjects:
multiple mitochondrial dysfunction syndrome
MMDS
IBA57
iron-sulfur clusters
leukoencephalopathy
Online Access:https://www.mdpi.com/2073-4425/13/11/2044

Internet

https://www.mdpi.com/2073-4425/13/11/2044

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