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

Genes - 6 Nov 2022

Lang Steven H, Camponeschi Francesca, Joya Evan de, Borjas-Mendoza Paulo, Tekin Mustafa, Thorson Willa

Abstract excerpt

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 presented with a one-month history of progressive hypotonia, weakness, and episodes of upgaze deviation. This is the first...

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PMID: 36360281
DOI: 10.3390/genes13112044
PMCID: PMC9690653

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