Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0–24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of th...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Eur J Hum Genet
Hlavní autoři: Yogev, Yuval, Perez, Yonatan, Noyman, Iris, Madegem, Anwar Abu, Flusser, Hagit, Shorer, Zamir, Cohen, Eugene, Kachko, Leonid, Michaelovsky, Analia, Birk, Ruth, Koifman, Arie, Drabkin, Max, Wormser, Ohad, Halperin, Daniel, Kadir, Rotem, Birk, Ohad S
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567152/
https://ncbi.nlm.nih.gov/pubmed/28488683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.85
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky