Although almost all cases of SMA have the same underlying genetic cause—a biallelic deletion or mutation in the SMN1 gene—clinical ... of Philadelphia Infant Test of Neuromuscular Disorders ...

The three diagnostic tests for identifying genetic mutations associated with SMA met new European Union regulatory ...

In its most severe form, as in the case of this child, individuals lack both copies of the SMN1 gene, and have only one or two copies of a neighbouring gene, SMN2, that partially compensates for ...