Spinal Muscular Atrophy (SMA): Clinical Characteristics, Molecular Mechanisms and Treatment
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Spinal Muscular Atrophy (SMA) is an otosomal recessive genetic disorder characterized by the degeneration of motor neurons, leading to muscle weakness and atrophy. It is predominantly caused by mutations or deletions in the SMN1 gene, resulting in insufficient levels of functional SMN protein, which is crucial for motor neuron survival and function. The clinical presentation [...]
