Article

Heterogenicity of SMA genetics and carrier profile among Saudi patient cohort

2022-06-22

Abstract excerpt

<h4>Introduction: </h4> Spinal Muscular atrophy (SMA) is an inherited, neuromuscular disease which is characterized by the deterioration of spinal motor neurons, causing progressive muscular atrophy and weakening. It is an autosomal recessive disease with the absence or mutation of the survival motor neuron 1 (SMN1) gene as a hallmark; and SMN2 gene modulates the severity of the disease. SMA has been classified ba...

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Literature Corpus work: 2d291d90-8aaa-52fc-a981-9387326fb5b2
DOI: 10.21203/rs.3.rs-1760703/v1

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