<i>DNAJC30</i> Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients

<i>DNAJC30</i> Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients

Leber hereditary optic neuropathy (LHON) is a rare disorder causing a sudden painless loss of visual acuity in one or both eyes, affecting young males in their second to third decade of life. The molecular background of the LHON is up to 90%, genetically defined by a point mutation in mitochondrial...

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Bibliographic Details
Main Authors:	Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk, Katarzyna Nowomiejska, Magdalena Korwin, Monika Ołdak, Anna Wawrocka, Maciej R. Krawczyński
Format:	Article
Language:	English
Published:	MDPI AG 2023-12-01
Series:	International Journal of Molecular Sciences
Subjects:	Leber hereditary optic neuropathy (LHON) autosomal recessive LHON (LHONAR arLHON) <i>DNAJC30</i> mtDNA (mitochondrial DNA)
Online Access:	https://www.mdpi.com/1422-0067/24/24/17496

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