Associated Papers
LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Young RE et al.
Clinical Genetics, 2026
Association of LONP1 gene with epilepsy and the sub-regional effect.
Li SX et al.
Scientific Reports, 2024
39462050 (PubMed )
Supplement: 41598_2024_77039_MOESM1_ESM.pdf
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Nimmo GAM et al.
Human Molecular Genetics, 2019
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.
Inui T et al.
Journal of Human Genetics, 2017
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