Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD

American Journal of Human Genetics

Volumn 88, Issue 3, 2011, Pages 392-393

  Boespflug Tanguy, Odile ^a,b,c   Aubourg, Patrick ^d   Dorboz, Imen ^c   Bégou, Mélina ^c,e   Giraud, Geneviève ^c,e   Sarret, Catherine ^c,e,f   Vaurs Barrière, Catherine ^c,e  

^a HÔPITAL ROBERT DEBRÉ   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSERM   (France)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

^e UNIVERSITÉ CLERMONT AUVERGNE   (France)

^f UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P43;

AIMP1 GENE; DEGENERATIVE DISEASE; DEMYELINATING LEUKODYSTROPHY; DETERIORATION; DYSTONIA; GENE; GENE FUNCTION; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPOMYELINATING LEUKODYSTROPHY; LETTER; LEUKODYSTROPHY; MICROCEPHALY; MUSCLE HYPOTONIA; NEUROFILAMENT; NEUROIMAGING; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PELIZAEUS MERZBACHER DISEASE; PHENOTYPE; PRIORITY JOURNAL; SPASTICITY;

CYTOKINES; HUMANS; INFANT; INFANT, NEWBORN; ISRAEL; MAGNETIC RESONANCE IMAGING; MUTATION; MYELIN SHEATH; NEOPLASM PROTEINS; NEURODEGENERATIVE DISEASES; PELIZAEUS-MERZBACHER DISEASE; RNA-BINDING PROTEINS;

EID: 79952478532     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.12.015     Document Type: Letter

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