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Article

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

European journal of neurology - 1 Apr 2016

Rydning S L, Wedding I M, Koht J, Chawla M, Øye A-M, Sheng Y, Vigeland M D, Selmer K K, Tallaksen C M E

Abstract excerpt

BACKGROUND AND PURPOSE: SPG7 is one of the most common forms of autosomal recessive hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous, varying from a complex spastic ataxia to pure spastic paraplegia or pure ataxia. The aim of this study was to clinically and genetically characterize patients with SPG7 in Norway. METHODS: Six Norwegian families with a clinical diagnosis of hereditary...

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Identifiers

PMID: 26756429
DOI: 10.1111/ene.12937

Genes

SPG7

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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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