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A Case Report on Spinal Muscular Atrophy

Journal: International Journal of Science and Research (IJSR) (Vol.9, No. 2)

Publication Date:

Authors : ;

Page : 579-580

Keywords : Spinal muscular atrophy; SMN gene; autosomal recessive mendelian inheritence;

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Abstract

case report on spinal muscular atrophy - Spinal Muscular Atrophy is characterised by degeneration of lower motor neurons in spinal cord , causing progressive paralysis of limbs and trunk, followed by muscle atrophy sparing extraocular muscles . SMA is one of most frequent Autosomal Recessive diseases, with a carrier frequency of 1 in 50 and is the most common genetic cause of childhood mortality.

Last modified: 2021-06-27 15:43:04