Five patients with severe spinal muscular atrophy (SMA) type I, all of whom presented with
reduced fetal movements in utero, severe weakness at birth, and short survival time were
assessed to attempt to determine whether their phenotype could be explained by their
genotype. The diagnosis was confirmed by clinical, electrophysiological and
histopathological features. Polymerase chain reaction assays were used to define the
molecular diagnosis. A genedosage assay was used to assess the quantity of centromeric …