Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease

BACKGROUND: Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder characterized by nystagmus, hypotonia, ataxia, progressive spasticity, and cognitive decline. PMD classically results from a duplication of a genomic segment encompassing the entire PLP1 gene. Since the PLP1 gene i...

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Vydáno v:BMC Med Genet
Hlavní autoři: Masliah-Planchon, Julien, Dupont, Céline, Vartzelis, George, Trimouille, Aurélien, Eymard-Pierre, Eléonore, Gay-Bellile, Mathilde, Renaldo, Florence, Dorboz, Imen, Pagan, Cécile, Quentin, Samuel, Elmaleh, Monique, Kotsogianni, Christina, Konstantelou, Elissavet, Drunat, Séverine, Tabet, Anne-Claude, Boespflug-Tanguy, Odile
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4557901/
https://ncbi.nlm.nih.gov/pubmed/26329556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0226-6
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