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 a heritable neuromuscular disorder that causes
degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which …

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 …

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 (SMA) is an autosomal recessive, lower motor neuron disease.
Clinical heterogeneity is pervasive: three infantile (type I–III) and one adult‐onset (type IV) …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder
characterized by progressive loss of motor neurons in the spinal cord. Approximately 95% of …

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and
the most common genetic cause of infant mortality, affecting∼ 1 in 10,000 live births. The …

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder
caused by mutations of the SMN1 gene. Based on severity, three forms of SMA are …

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 …

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 …