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ISSN 2063-5346
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Spinal Muscular Atrophy (SMA): Disease for the world’s expensive therapy

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Ashutosh Singh, Radhika Patel , Akhilesh Kumar, Sushmita Patel
» doi: 10.48047/ecb/2023.12.8.146

Abstract

The most frequent genetic cause of new born death is spinal muscular atrophy, a hereditary degenerativecondition of lower motor neurons characterised by increasing muscle weakening and atrophy. It is brought on by a drop in the "Survival of Motor Neuron" (SMN) protein level. Its autosomal recessive inheritance pattern, caused by mutations in the SMN1 gene on chromosome 5q13, is the outcome of these mutations. However, the SMN gene has a unique structure (an inverted duplication) that providesprospective treatment targets, unlike many other autosomal recessive illnesses.

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