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Article

Novel spastin mutations and their expression analysis in two Italian families.

European journal of human genetics : EJHG - 1 Sept 2003

Molon Annamaria, Montagna Pasquale, Angelini Corrado, Pegoraro Elena

Abstract excerpt

Mutations in spastin cause the most common form of pure autosomal dominant hereditary spastic paraparesis (SPG4). Here, we report two Italian families affected with SPG4-linked HSP harboring two novel spastin mutations. SSCP/sequencing analysis of the spastin gene showed a single base pair deleti...

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Source

Identifiers

PMID: 12939659
DOI: 10.1038/sj.ejhg.5201027

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12939659-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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