AGC1 Deficiency Associated with Global Cerebral Hypomyelination
AGC1 Deficiency Associated with Global Cerebral Hypomyelination
About this item
Full title
Author / Creator
Publisher
United States: Massachusetts Medical Society
Journal title
Language
English
Formats
Publication information
Publisher
United States: Massachusetts Medical Society
Subjects
More information
Scope and Contents
Contents
This study shows that a variant of mitochondrial aspartate–glutamate carrier isoform ME 1 (AGC1), a molecule thought to be important in providing energy for neurons of the central nervous system, is associated with developmental arrest, hypotonia, seizures, and hypomyelination.
This study shows that a variant of mitochondrial aspartate–glutamate...
Alternative Titles
Full title
AGC1 Deficiency Associated with Global Cerebral Hypomyelination
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_556712
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_556712
Other Identifiers
ISSN
0028-4793
E-ISSN
1533-4406
DOI
10.1056/NEJMoa0900591
