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Article

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis.

Neuromuscular disorders : NMD - 1 Jan 2012

Conte Amelia, Lattante Serena, Zollino Marcella, Marangi Giuseppe, Luigetti Marco, Del Grande Alessandra, Servidei Serenella, Trombetta Federica, Sabatelli Mario

Abstract excerpt

Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with literature data, indicate that this mutation is...

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Source

Identifiers

PMID: 21907581
DOI: 10.1016/j.nmd.2011.08.003

Genes

FUS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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