AGC1 deficiency and cerebral hypomyelination

New England Journal of Medicine

Volumn 361, Issue 20, 2009, Pages 1997-1998

  Wolf, Nicole I ^a   Van Der Knaap, Marjo S ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTATE GLUTAMATE CARRIER ISOFORM 1; MITOCHONDRIAL PROTEIN; UNCLASSIFIED DRUG;

ASPARTATE GLUTAMATE CARRIER ISOFORM 1 DEFICIENCY; BRAIN ATROPHY; CLINICAL FEATURE; DEMYELINATING DISEASE; HUMAN; LETTER; MITOCHONDRION; MYELINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN DEFICIENCY;

AMINO ACID TRANSPORT SYSTEMS, ACIDIC; ANTIPORTERS; ATROPHY; CEREBRUM; EPILEPSY; HEREDITARY CENTRAL NERVOUS SYSTEM DEMYELINATING DISEASES; HUMANS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL MEMBRANE TRANSPORT PROTEINS;

EID: 70449673243     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMc091723     Document Type: Letter

References (3)

1. Wibom R, Lasorsa FM, Tohonen V, et al. AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med 2009;361:489-495 [Erratum, N Engl J Med 2009;361:731.]
2. Schiffmann R, van der Knaap MS. Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 2009;72:750-759
3. Hanefeld FA, Brockmann K, Pouwels PJ, Wilken B, Frahm J, Dechent P. Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Neurology 2005;65:701-706 (Pubitemid 41285848)