X-Linked Infantile Spinal Muscular Atrophy Latest Advances

Find the Latest Research About X-Linked Infantile Spinal Muscular Atrophy

Last Updated: 02/24/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

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: 02/24/2026