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A relatively common neurogenic condition is the autosomal dominant congenital Spinal Muscular Atrophy, mainly affecting the lower limbs (SMA-LED).A proportion of patients with SMA-LED carry mutations in the tail domain of the Cytoplasmic Dynein Heavy Chain 1 (DYNC1H1). Mutations located in the same DYNC1H1 domain have also been described in a family with Charcot–Marie–Tooth, while mutations located...
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