Crowdfunding effort identifies the causative mutation in a patient with nystagmus, microcephaly, dystonia and hypomyelination

J Genet Genomics. 2015 Feb 20;42(2):79-81. doi: 10.1016/j.jgg.2014.12.004. Epub 2015 Jan 10.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Dystonia / diagnosis
  • Dystonia / genetics*
  • Exome
  • Female
  • Hereditary Central Nervous System Demyelinating Diseases / diagnosis
  • Hereditary Central Nervous System Demyelinating Diseases / genetics*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Magnetic Resonance Imaging
  • Microcephaly / diagnosis
  • Microcephaly / genetics*
  • Models, Molecular
  • Mutation*
  • Nystagmus, Congenital / diagnosis
  • Nystagmus, Congenital / genetics*
  • Protein Conformation
  • Syndrome
  • Tubulin / chemistry
  • Tubulin / genetics

Substances

  • TUBB4A protein, human
  • Tubulin