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rare diseases affecting the peripheral nerves, or the muscles, or the neuromuscular junction, or anterior horn cells. Some of those diseases are genetic, while others are not. The vast majority of them ...

small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense ...

dystrophin protein. Although many novel therapies are under development for DMD, there is currently no cure and affected individuals are often confined to a wheelchair by their teens and die in their ...