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Article

Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society - 1 Jan 2000

Sinico Martine, Bassez Guillaume, Touboul Claudine, Cavé Helene, Vergnaud Armand, Zirah Clément, Fleury-Feith Jocelyne, Gettler Sylvain, Vojtek Anne Marie, Chevalier Nicole, Amram Daniel, Alsamad Issam Abd, Haddad Bassam, Encha-Razavi Ferechté

Abstract excerpt

The neuromuscular spindle (NMS) is a proprioceptive myofibrillar component of skeletal muscles that is necessary to maintain normal muscle tone and coordination. Recently, an excess of NMS has been reported as a congenital neuromuscular syndrome with a Noonan phenotype, now linked to Costello syn...

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Identifiers

PMID: 20658932
DOI: 10.2350/09-06-0664-CR.1

Genes

NMS
HRAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20658932-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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