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Article

Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

Neuromuscular disorders : NMD - 1 Jul 2017

Beecroft Sarah J, McLean Catriona A, Delatycki Martin B, Koshy Kurian, Yiu Eppie, Haliloglu Goknur, Orhan Diclehan, Lamont Phillipa J, Davis Mark R, Laing Nigel G, Ravenscroft Gianina

Abstract excerpt

Autosomal dominant mutations of DYNC1H1 cause a range of neurogenetic diseases, including mental retardation with cortical malformations, hereditary spastic paraplegia and spinal muscular atrophy. Using SNP array, linkage analysis and next generation sequencing, we identified two families and one isolated proband sharing a known spinal muscular atrophy, lower extremity predominant (SMALED) causing mutation...

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PMID: 28554554
DOI: 10.1016/j.nmd.2017.04.011

Genes

BICD2

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