Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)

Ophthalmology. 2019 Feb;126(2):320-322. doi: 10.1016/j.ophtha.2018.09.013. Epub 2018 Oct 11.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Biopsy
  • DNA / genetics*
  • DNA Mutational Analysis
  • Electroretinography
  • Glycogen Storage Disease Type V / complications*
  • Glycogen Storage Disease Type V / diagnosis
  • Glycogen Storage Disease Type V / genetics
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Peripherins / genetics*
  • Peripherins / metabolism
  • Retinal Diseases / diagnosis
  • Retinal Diseases / etiology
  • Retinal Diseases / genetics*
  • Tomography, Optical Coherence

Substances

  • PRPH2 protein, human
  • Peripherins
  • DNA