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PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion

BACKGROUND: Familial spastic paraplegia (FSP) is a heterogeneous group of disorders characterized primarily by progressive lower limb spasticity and weakness. More than 50 disease loci have been described with different modes of inheritance. Recently, we described a novel missense mutation (c.803G&g...

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Detalhes bibliográficos
Publicado no:Brain Behav
Main Authors: Ho, Philip Wing-Lok, Pang, Shirley Yin-Yu, Li, Miaoxin, Tse, Zero Ho-Man, Kung, Michelle Hiu-Wai, Sham, Pak-Chung, Ho, Shu-Leong
Formato: Artigo
Idioma:Inglês
Publicado em: BlackWell Publishing Ltd 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4356846/
https://ncbi.nlm.nih.gov/pubmed/25798335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/brb3.321
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