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

@article{Dlamini2013ClinicalAN,
  title={Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene.},
  author={Nomazulu Dlamini and Dragana J. Josifova and Simon M. L. Paine and Elizabeth A Wraige and Matthew C Pitt and Amanda J Murphy and Andrew King and Stefan J A Buk and Frances Smith and Stephen J. Abbs and Caroline S Sewry and Thomas S Jacques and Heinz Jungbluth},
  journal={Neuromuscular disorders : NMD},
  year={2013},
  volume={23 5},
  pages={391-8}
}
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 reduced fetal movements. He had a myopathic face, profound weakness, multiple… CONTINUE READING
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