PMC:4157140 / 24943-25509
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157140","sourcedb":"PMC","sourceid":"4157140","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157140","text":"Although white matter involvement can be an associated feature of LS, “pure” (predominant or exclusive) leukodystrophy encompasses a substantial fraction of infantile mitochondrial encephalopathies, ranging from 10% to 50% of the cases in different cohorts.21–23 In some cases, specific MRI leukodystrophic patterns are consistently associated with mutations in specific genes related to mitochondrial function, notably a number of mitochondrial aminoacyl tRNA synthetases including DARS224 (MIM 610956), EARS225 (MIM 612799), and more recently AARS211 (MIM 612035).","tracks":[{"project":"2_test","denotations":[{"id":"25175347-12075488-2048460","span":{"begin":260,"end":262},"obj":"12075488"},{"id":"25175347-21620787-2048460","span":{"begin":260,"end":262},"obj":"21620787"},{"id":"25175347-20972245-2048460","span":{"begin":260,"end":262},"obj":"20972245"},{"id":"25175347-17384640-2048461","span":{"begin":487,"end":490},"obj":"17384640"},{"id":"25175347-22492562-2048462","span":{"begin":509,"end":512},"obj":"22492562"},{"id":"25175347-24808023-2048463","span":{"begin":549,"end":552},"obj":"24808023"}],"attributes":[{"subj":"25175347-12075488-2048460","pred":"source","obj":"2_test"},{"subj":"25175347-21620787-2048460","pred":"source","obj":"2_test"},{"subj":"25175347-20972245-2048460","pred":"source","obj":"2_test"},{"subj":"25175347-17384640-2048461","pred":"source","obj":"2_test"},{"subj":"25175347-22492562-2048462","pred":"source","obj":"2_test"},{"subj":"25175347-24808023-2048463","pred":"source","obj":"2_test"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"2_test","color":"#93ecae","default":true}]}]}}