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Proximal spinal muscular atrophy is caused by deletion or mutation of the survival motor neuron 1 gene, SMN1 . Rentention of a nearly identical copy gene, SMN2 , enables survival but is unable to fully compensate for the loss of SMN1 . The SMN1 and SMN2 genes differ by a single nucleotide that...
Motoneuron diseases cause paralysis and death due to loss of motoneurons that innervate skeletal muscle. Spinal muscular atrophy is a human motoneuron disease that is genetically linked to the survival motor neuron gene ( SMN ). Although SMN was identified more than a decade ago, it remains...
Spinal muscular atrophy is the second most common fatal childhood disorder. Core clinical features include muscle weakness caused by degenerating lower motor neurons and a high incidence of bone fractures and hypercalcemia. Fractures further compromise quality of life by progression of joint...
The clinical classification of spinal muscular atrophy, caused by deletion of the survival motor neuron 1 gene ( SMN1 ), is based on age at onset and maximum function achieved. Evidence suggests that maximum function achieved is more closely related to life expectancy than age at onset....
The SMN complex is essential for the biogenesis of spliceosomal small nuclear ribonucleoproteins and likely functions in the assembly, metabolism, and transport of a diverse number of other ribonucleoproteins. Specifically, the SMN complex assembles 7 Sm proteins into a core structure around a...
Spinal muscular atrophy, a common autosomal recessive motor neuron disorder, is caused by the loss of the survival motor neuron gene ( SMN1 ). SMN2 , a nearly identical copy gene, is present in all spinal muscular atrophy patients but differs by a critical nucleotide that alters exon 7 splicing...
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