A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance
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Recent studies have identified mutations in the dynein heavy chain gene (DYNC1H1), which lead to 2 closely related human motor neuropathies: a dominant spinal muscular atrophy with lower extremity predominance (SMALED) and axonal Charcot-Marie-Tooth (CMT) dise... ...
