Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy
Nimmo, Graeme A M, Venkatesh, Sundararajan, Pandey, Ashutosh K, Marshall, Christian R, Hazrati, Lili-Naz, Blaser, Susan, Ahmed, Sohnee, Cameron, Jessie, Singh, Kamalendra, Ray, Peter N, Suzuki, CarolyLanguage:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddy351
Date:
October, 2018
File:
PDF, 12.45 MB
english, 2018