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Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome

Abstract Background Primary mitochondrial diseases (PMD) are one of the most common metabolic genetic disorders. They are due to pathogenic variants in the mitochondrial genome (mtDNA) or nuclear genome (nDNA) that impair mitochondrial function and/or structure. We hypothesize that there is overlap...

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Principais autores: Anastasia Ambrose, Shalini Bahl, Saloni Sharma, Dan Zhang, Clara Hung, Shailly Jain-Ghai, Alicia Chan, Saadet Mercimek-Andrews
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-11-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Primary mitochondrial diseases
Exome sequencing
Mitochondrial genome sequencing
Online adgang:https://doi.org/10.1186/s13023-024-03437-x
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