Article
Association of severity of spinal muscular atrophy with the loss of NAIP gene
Neurology India
(2006)
Abstract
Spinal muscular atrophy (SMA) is a devastating genetic disorder of children and infants. Based on the onset and
severity of disease, SMA patients are grouped into three types. SMA type I is the most severe and the most
frequently occurring form in which patients die before the age of two years. SMA type II is of intermediate severity in
which patients survive longer than two years, but may die before they reach the age five years. SMA type III is less
frequent disease in which patients may live well into their adulthood. All three forms of SMAs are associated with the
deletion of or mutation within the Survival Motor Neuron 1 (SMN1) gene, which produces SMN, an essential protein
for survival of all cell types.
Disciplines
Publication Date
2006
Publisher Statement
This article is published as Singh RN. Association of severity of spinal muscular atrophy with the loss of NAIP gene.Neurol India 2006;54:246.
Citation Information
Ravindra N. Singh. "Association of severity of spinal muscular atrophy with the loss of NAIP gene" Neurology India Vol. 54 Iss. 3 (2006) p. 246 Available at: http://works.bepress.com/ravindra-singh/26/
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