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Article

PMCA4 (ATP2B4) mutation in familial spastic paraplegia.

PloS one - 1 Jan 2014

Li Miaoxin, Ho Philip Wing-Lok, Pang Shirley Yin-Yu, Tse Zero Ho-Man, Kung Michelle Hiu-Wai, Sham Pak-Chung, Ho Shu-Leong

Abstract excerpt

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. In this study, we identified a novel missense mutation (c.803G>A, p.R268Q) in the plasma membrane calcium ATPase (PMCA4, or ATP2B4) gene in a Chinese family with autosomal dominant FSP...

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Identifiers

PMID: 25119969
DOI: 10.1371/journal.pone.0104790
PMCID: PMC4132067

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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