Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene

Haematologica. 2018 Dec;103(12):e564-e566. doi: 10.3324/haematol.2018.194464. Epub 2018 Jul 5.
No abstract available

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Anemia, Sideroblastic / complications
  • Anemia, Sideroblastic / genetics*
  • DNA Mutational Analysis / methods
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Middle Aged
  • Muscular Diseases / complications*
  • Mutation, Missense*
  • Sequence Homology, Amino Acid
  • Tyrosine-tRNA Ligase / genetics*

Substances

  • Tyrosine-tRNA Ligase