Autosomal-recessive proximal spinal muscular atrophy (Werdnig–Hoffmann, Kugelberg–
Welander) is caused by mutation of the SMN1 gene, and the clinical severity correlates with …

Spinal muscular atrophy is an autosomal recessive disease characterized by motor neurone
loss, muscle atrophy and weakness. Deletion or mutation of the SMN1 gene reduces …

Spinal muscular atrophy (SMA) is a motor neuron disease caused by loss of function
mutations in the Survival Motor Neuron 1 (SMN1) gene and reduced expression of the SMN …

Spinal muscular atrophy is an autosomal recessive neurodegenerative disorder
characterized by progressive muscle wasting and loss of muscle function due to severe …

The molecular basis of spinal muscular atrophy (SMA), an autosomal recessive
neuromuscular disorder, is the homozygous loss of the survival motor neuron gene 1 …

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 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 hereditary neurodegenerative disease caused by
homozygous deletions or mutations in the SMN1 gene on Chr. 5q13. SMA spans from …

Opinion statement Spinal muscular atrophy is caused by mutations in the survival motor
neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The loss of alpha motor …

Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease,
characterized by decreased amounts of survival motor neuron (SMN) protein, due to an …