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Last Updated: 10/31/2025

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Found 3 publications

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.

X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype.

Journal: Neuromuscular disorders : NMD
Published: October 06, 2018

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

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

Journal: Neuromuscular disorders : NMD
Published: March 06, 2015

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

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

Journal: Neuromuscular disorders : NMD
Published: May 30, 2012
Showing 1-3 of 3

Last Updated: 10/31/2025