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Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene
Autosomal recessive hereditary spastic paraparesis is rare.We present 4 patients with slowly progressive predominantly lower limb spasticity and ataxia. Only one patient had family history of ataxia but without any underlying diagnosis. All of them proved negative for the mutation of Spinocerebelalr...
Autores principales: | Bhattacharjee, Shakya, Beauchamp, Nicholas, Murray, Brian E., Lynch, Timothy |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Riyadh : Armed Forces Hospital
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946381/ https://www.ncbi.nlm.nih.gov/pubmed/29057857 http://dx.doi.org/10.17712/nsj.2017.4.20170253 |
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