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...
Main Authors: | Steven H. Lang, Francesca Camponeschi, Evan de Joya, Paulo Borjas-Mendoza, Mustafa Tekin, Willa Thorson |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2022-11-01
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Series: | Genes |
Subjects: | |
Online Access: | https://www.mdpi.com/2073-4425/13/11/2044 |
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