Article
Deletion analysis of spinal muscular atrophy in southern Indian population.
Neurology India - 1 Jan 2000
Swaminathan Bhairavi, Shylashree S, Purushottam Meera, Taly A B, Nalini A
Abstract excerpt
BACKGROUND: Proximal spinal muscular atrophy (SMA) is a genetically heterogeneous disease with paresis and muscle atrophy due to loss of anterior horn cell function. The survival of motor neuron gene (SMN) and neuronal apoptosis inhibitory protein (NAIP) play a primary role. Both the gene homologues exist as inverted duplications on Chromosome 5q. The telomeric/functional (SMN1) and the centromeric (SMN2) copies...
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