Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

Recessive mutations in GJA12/GJC2, the gene that encodes the gap junction protein connexin47 (Cx47), cause Pelizaeus-Merzbacher-like disease (PMLD), an early onset dysmyelinating disorder of the CNS, characterized by nystagmus, psychomotor delay, progressive spasticity and cerebellar signs. Here we...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Orthmann-Murphy, Jennifer L., Salsano, Ettore, Abrams, Charles K., Bizzi, Alberto, Uziel, Graziella, Freidin, Mona M., Lamantea, Eleonora, Zeviani, Massimo, Scherer, Steven S., Pareyson, Davide
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2009
Teme:
Original Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2640216/
https://ncbi.nlm.nih.gov/pubmed/19056803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awn328
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items