Condition: Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
rs387906738 in
DYNC1H1 gene and
Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant
PMID 28193117 2017 Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
PMID 25512093 2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.
PMID 26846447 2016 Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.
PMID 22459677 2012 Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy.
PMID 22847149 2012 A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
PMID 25484024 2015 Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance.
PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.