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

Medicine and Dentistry

• Anterior Horn Cell 50%
• Areflexia 50%
• Contracture 50%
• Denervation 50%
• Disease 100%
• Face 50%
• Fetal Movement 50%
• Hypotonia 50%
• Infant 50%
• Male 50%
• Muscle Biopsy 50%
• Pathology 50%
• Respiratory Failure 50%
• Weakness 50%

Neuroscience

• Denervation 50%
• Hypotonia 50%
• Magnetic Resonance Imaging of Brain 50%
• Neural Development 50%
• Neurophysiology 50%
• Proteasome 100%
• Sensory System 50%
• Thalamus 50%
• Ubiquitin 100%
• White Matter 50%