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...

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Bibliografski detalji
Izdano u:Eur J Hum Genet
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2017
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Article
Online pristup: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
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