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Article

X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene.

Neuromuscular disorders : NMD - 1 Aug 2015

Jędrzejowska Maria, Jakubowska-Pietkiewicz Elżbieta, Kostera-Pruszczyk Anna

Abstract excerpt

Infantile X-linked spinal muscular atrophy (SMAX2) is a rare form of spinal muscular atrophy manifesting as severe hypotonia, areflexia, arthrogryposis, facial weakness and cryptorchidism, and frequently accompanied by bone fractures. We present a male patient with SMAX2 who presented with typical symptoms at birth, preceded by reduced fetal movements in the second and third trimesters of pregnancy. Clinical...

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Source

Identifiers

PMID: 26028276
DOI: 10.1016/j.nmd.2015.05.001

Genes

UBA1

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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