Dominant muscular dystrophy with a novel SYNE1 gene mutation

Muscle Nerve. 2015 Jan;51(1):145-7. doi: 10.1002/mus.24357. Epub 2014 Nov 24.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Cytoskeletal Proteins
  • Female
  • Humans
  • Lysosomal-Associated Membrane Protein 2 / genetics
  • Male
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics*
  • Nuclear Proteins / genetics*

Substances

  • Cytoskeletal Proteins
  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • SYNE1 protein, human