Spinal muscular atrophy (SMA) is a genetic neurogenerative disease which affects approximately one in every 6,000 to 10,000 children. It is caused by mutations in the copy of the SMN1 (survival motor neuron 1) gene and leads to muscle deterioration, the severity of which varies depending on the type of SMA the child has but in severe cases can be fatal.
In this video from the DNA Learning Center, Dr. Charlotte Summer from John Hopkins Hospital briefly explains the SMN1 and SMN2 genes involved in SMA and how the missing exon 7 from a patient’s SMN2 gene affects proteins, resulting in the disease developing.
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