Classic Pelizaeus-Merzbacher disease in a girl with an unbalanced chromosomal translocation and functional duplication of PLP1. | Mov Disord;24(14): 2171-2, 2009 Oct 30. | MEDLINE

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

Yiu, Eppie M; Farrell, Sandra A; Soman, Teesta.

Mov Disord ; 24(14): 2171-2, 2009 Oct 30.

Article in En | MEDLINE | ID: mdl-19705472

Subject(s)

Gene Duplication; Myelin Proteolipid Protein/genetics; Pelizaeus-Merzbacher Disease/genetics; Translocation, Genetic/genetics; Child, Preschool; Failure to Thrive; Female; Genes, X-Linked; Humans; Magnetic Resonance Imaging; Oligonucleotide Array Sequence Analysis

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Myelin Proteolipid Protein / Gene Duplication / Pelizaeus-Merzbacher Disease Limits: Child, preschool / Female / Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2009 Document type: Article

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Translocation, Genetic / Myelin Proteolipid Protein / Gene Duplication / Pelizaeus-Merzbacher Disease Limits: Child, preschool / Female / Humans Language: En Journal: Mov Disord Journal subject: NEUROLOGIA Year: 2009 Document type: Article