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Article

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.

Neuromuscular disorders : NMD - 1 May 2013

Dlamini Nomazulu, Josifova Dragana J, Paine Simon M L, Wraige Elizabeth, Pitt Matthew, Murphy Amanda J, King Andrew, Buk Stefan, Smith Frances, Abbs Stephen, Sewry Caroline, Jacques Thomas S, Jungbluth Heinz

Abstract excerpt

Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. Published pathological reports are scarce. Here we report a male infant who presented from birth with predominantly truncal hypotonia following an antenatal history of...

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Source

Identifiers

PMID: 23518311
DOI: 10.1016/j.nmd.2013.02.001

Genes

UBA1
SMN1

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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