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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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
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Article
Acesso em linha: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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