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) disease.(1,2) We describe the identification of a novel mutation (p.G807S) in DYNC1H1 as the cause of SMALED.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4807905 | PMC |
| http://dx.doi.org/10.1212/NXG.0000000000000017 | DOI Listing |
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