Spinal Muscular Atrophy: Classification, Diagnosis, Background, Molecular Mechanism and Development of Therapeutics
نویسندگان
چکیده
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and one of the most common genetic causes of infant death. The loss or mutation of the SMN1 gene results in reduced SMN protein level leading to motor neuron death and progressive muscle atrophy. Although recent progress has been made in our understanding of the molecular mechanisms underlying the pathogenesis of the disease, there is currently no cure for SMA. In this review, we summarize the clinical manifestations, molecular pathogenesis, diagnostic strategy and development of therapeutic regimes for the better understanding and treatment of SMA.
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تاریخ انتشار 2013