Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder
Nafisinia M, Guo Y, Dang X, Li J, Chen Y, Zhang J, Lake N, Gold W, Riley L, Thorburn D, Keating B, Xu X, Hakonarson H, Christodoulou J. Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder. JIMD Reports 2016, 32: 117-124. PMID: 27344648, PMCID: PMC5362551, DOI: 10.1007/8904_2016_541.Peer-Reviewed Original ResearchLeigh syndromeCompound heterozygous mutationsLate-onset Leigh syndromeWhole-exome sequencingWhole exome sequencing identifiesAmino acid substitution p.Putaminal abnormalitiesSpongiform lesionsCapillary proliferationMitochondrial respiratory chain functionLactate peakExome sequencing identifiesPatientsBrain tissuePatient muscleSyndromeBrain MRSHeterozygous mutationsExome sequencingPathogenic effectsProtein expressionRespiratory chain functionLaboratory evaluationSubstitution p.Significant reduction