Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
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DOI: 10.1093/hmg/ddy351
Abstract: LonP1 is crucial for maintaining mitochondrial proteostasis and mitigating cell stress. We identified a novel homozygous missense LONP1 variant, c.2282 C > T, (p.Pro761Leu), by whole-exome and Sanger sequencing in two siblings born to healthy consanguineous parents.… read more here.
Keywords: progressive cerebellar; cerebellar atrophy; pyruvate dehydrogenase; lonp1 ... See more keywords