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Spinal muscular atrophy with intellectual disability
- ... the survival of specialized nerve cells in the spinal cord called motor neurons, which play an ... and intellectual disability. EXOSC3 gene mutations cause about half of all ...
- ... neuronal growth, is thought to contribute to the muscle weakness and atrophy experienced by ... disability. These affected individuals often have a brain malformation ...
- ... R, Lee M, King MC, Levy-Lahad E. Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation ...