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Article

ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.

Acta neuropathologica - 1 Jul 2016

Nagata Kenichi, Kiryu-Seo Sumiko, Tamada Hiromi, Okuyama-Uchimura Fumi, Kiyama Hiroshi, Saido Takaomi C

Abstract excerpt

The membrane-bound metalloprotease endothelin-converting enzyme-like 1 (ECEL1) has been newly identified as a causal gene of a specific type of distal arthrogryposis (DA). In contrast to most causal genes of DA, ECEL1 is predominantly expressed in neuronal cells, suggesting a unique neurogenic pathogenesis in a subset of DA patients with ECEL1 mutation. The present study analyzed developmental motor innervation...

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Source

Identifiers

PMID: 26951213
DOI: 10.1007/s00401-016-1554-0

Genes

ECEL1

Provenance

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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