Objective: Homozygous deletions/mutations of the SMN1 gene cause infantile spinal
muscular atrophy (SMA). The presence of at least one SMN2 gene copy is required for …

Background Hereditary proximal spinal muscular atrophy (SMA) is a severe neuromuscular
disease of childhood caused by homozygous loss of function of the survival motor neuron …

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, which is the leading
genetic cause of infantile death. SMA is the most common inherited motor neuron disease …

Spinal muscular atrophy is a common autosomal recessive neuromuscular disorder caused
by the homozygous loss of the SMN1 gene. The absence of the SMN1 gene has been …

Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by loss of the
SMN1 gene. The clinical distinction between SMA type I to IV reflects different age of onset …

Spinal muscular atrophy (SMA) is a common neuromuscular disorder with autosomal
recessive inheritance, resulting in the degeneration of motor neurons. The incidence of the …

We reviewed the natural history and assessed the SMN2 copy number of 66 patients with
infantile spinal muscular atrophy (SMA) type I born between 2000 and 2005 in Germany …

The autosomal recessive spinal muscular atrophy (SMA), a neuromuscular disease and
frequent cause of early death in childhood, is caused in 96% of patients by homozygous …

Objective: Classic infantile spinal muscular atrophy (SMA) is believed to be a purely motor
disorder, affecting neurons of the spinal anterior horn and nuclei of the lower cranial nerves …

Background: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the
SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 …