Genomic profiling in neuronal dyneinopathies and updated classifications

Am J Med Genet A. 2021 Aug;185(8):2607-2610. doi: 10.1002/ajmg.a.62243. Epub 2021 May 15.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cytoplasmic Dyneins / genetics*
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Humans
  • Neurodevelopmental Disorders / diagnosis
  • Neurodevelopmental Disorders / genetics
  • Neuromuscular Diseases / diagnosis
  • Neuromuscular Diseases / genetics
  • Neurons / metabolism*
  • Phenotype*

Substances

  • DYNC1H1 protein, human
  • Cytoplasmic Dyneins