Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1

Movement Disorders

Volumn 24, Issue 14, 2009, Pages 2171-2172

  Yiu, Eppie M ^a   Farrell, Sandra A ^b   Soman, Teesta ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b CREDIT VALLEY HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEOLIPID PROTEIN;

CASE REPORT; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CONVERGENT STRABISMUS; DEMYELINATION; DNA MICROARRAY; DYSTONIA; FAILURE TO THRIVE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPERREFLEXIA; LETTER; MOTOR DEVELOPMENT; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

CHILD, PRESCHOOL; FAILURE TO THRIVE; FEMALE; GENE DUPLICATION; GENES, X-LINKED; HUMANS; MAGNETIC RESONANCE IMAGING; MYELIN PROTEOLIPID PROTEIN; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PELIZAEUS-MERZBACHER DISEASE; TRANSLOCATION, GENETIC;

EID: 70450186021     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.22734     Document Type: Letter

References (8)

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