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Article

A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature.

Neurogenetics - 1 Apr 2022

Chouery Eliane, Mehawej Cybel, Megarbane Andre

Abstract excerpt

Hereditary spastic paraplegia (HSP) refers to a group of genetic disorders characterized by progressive weakness and stiffness in the muscles of the legs. To date, more than 83 types of HSP exist, differing in their etiology, their degree of severity, and the nature of symptoms associated with each of these conditions. Owing to their genetic and clinical heterogeneity, the establishment of an accurate diagnosis...

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PMID: 35041108
DOI: 10.1007/s10048-022-00685-6

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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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