Condition: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O


rs1057518083 in DYNC1H1 gene and CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O PMID 26846447 2016 Identification of a de novo DYNC1H1 mutation via WES according to published guidelines.

PMID 28554554 2017 Expanding the phenotypic spectrum associated with mutations of DYNC1H1.

PMID 24307404 2014 Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development.

PMID 25512093 2015 Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies.

PMID 21820100 2011 Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.