Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Title
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
Authors
Keywords
-
Journal
HUMAN MOLECULAR GENETICS
Volume 28, Issue 2, Pages 290-306
Publisher
Oxford University Press (OUP)
Online
2018-10-06
DOI
10.1093/hmg/ddy351

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