Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …

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

Spinal muscular atrophy is one of the most common autosomal recessive diseases, affecting
approximately one in 10,000 live births and with a carrier frequency of approximately one in …

Purpose: This study describes SMN1 deletion frequency, carrier studies, and the effect of the
modifying SMN2 gene on the spinal muscular atrophy (SMA) phenotype. A novel allele …

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 …

Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the
spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle …

With a prevalence of approximately 1/10 000, and a carrier frequency of 1/40–1/60 the
proximal spinal muscular atrophies (SMAs) are among the most frequent autosomal …

Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases,
affecting approximately 1 in 10,000 live births, and with a carrier frequency of approximately …

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder and
a leading genetic cause of infantile mortality. SMA is caused by mutation or deletion of …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease
characterized by degeneration of alpha motor neurons in the spinal cord, resulting in …