Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale

Neurology. 2005 Jan 25;64(2):395-6. doi: 10.1212/01.WNL.0000149755.85666.DB.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amino Acid Substitution
  • DNA Mutational Analysis
  • Diaphragm / physiopathology
  • Disorders of Excessive Somnolence / etiology
  • Electromyography
  • Female
  • Heart Failure / etiology
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Muscle Proteins / genetics*
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / genetics*
  • Mutation, Missense
  • Point Mutation
  • Pulmonary Heart Disease / etiology*
  • Respiratory Insufficiency / etiology
  • Selenoproteins

Substances

  • Muscle Proteins
  • SELENON protein, human
  • Selenoproteins