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Article

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.

Neurology - 15 Apr 2014

Butterfield Russell J, Stevenson Tamara J, Xing Lingyan, Newcomb Tara M, Nelson Benjamin, Zeng Wenqi, Li Xiang, Lu Hsiao-Mei, Lu Hong, Farwell Gonzalez Kelly D, Wei Jia-Perng, Chao Elizabeth C, Prior Thomas W, Snyder Pamela J, Bonkowsky Joshua L, Swoboda Kathryn J

Abstract excerpt

OBJECTIVE: We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the IGHMBP2 gene. METHODS: Exome sequencing was used to identify a de novo mutation in the LAS1L gene in the proband. Pathogenicity of the mutation was validated using a zebrafish...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24647030
DOI: 10.1212/WNL.0000000000000305
PMCID: PMC4001186

Genes

LAS1L
IGHMBP2

Variants

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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