Article
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Clinical genetics - 1 Nov 2022
Zawadzka Marta, Krygier Magdalena, Pawłowicz Małgorzata, Wilke Matheus Vernet Machado Bressan, Rutkowska Karolina, Gueguen Naig, Desquiret-Dumas Valerie, Klee Eric W, Schimmenti Lisa A, Sławek Jarosław, Procaccio Vincent, Płoski Rafał, Mazurkiewicz-Bełdzińska Maria
Abstract excerpt
Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding a protein crucial for the repair of mitochondrial complex I subunits, have been associated with Leber hereditary optic neuropathy and LS. It was suggested that clinical heterogeneity of DNAJC30-associated mitochondrial...
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