Causes of spinal muscular atrophy

Causes of spinal muscular atrophy

What causes spinal muscular atrophy (SMA)? 

Spinal muscular atrophy is an autosomal recessive disorder most commonly caused by deletions in the survival motor neuron gene 1 ( SMN1 ) on chromosome 5q13.

The severity of the clinical phenotype for an individual is inversely correlated with the number of SMN2 copies.

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