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Article

A novel DYNC1H1 mutation causing spinal muscular atrophy with lower extremity predominance

1 Aug 2015

Abstract excerpt

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. Acknowledgment: The authors thank patients and...

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PMID: 27066557
DOI: 10.1212/nxg.0000000000000017

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