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Article

Zebrafish survival motor neuron mutants exhibit presynaptic neuromuscular junction defects.

Human molecular genetics - 1 Oct 2009

Boon Kum-Loong, Xiao Shu, McWhorter Michelle L, Donn Thomas, Wolf-Saxon Emma, Bohnsack Markus T, Moens Cecilia B, Beattie Christine E

Abstract excerpt

Spinal muscular atrophy (SMA), a recessive genetic disease, affects lower motoneurons leading to denervation, atrophy, paralysis and in severe cases death. Reduced levels of survival motor neuron (SMN) protein cause SMA. As a first step towards generating a genetic model of SMA in zebrafish, we identified three smn mutations. Two of these alleles, smnY262stop and smnL265stop, were stop mutations that resulted in...

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Identifiers

PMID: 19592581
DOI: 10.1093/hmg/ddp310
PMCID: PMC2742401

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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