Myopathy in a 20-year-old female patient with D4ST-1 deficient Ehlers-Danlos syndrome due to a homozygous CHST14 mutation

Am J Med Genet A. 2012 Apr;158A(4):850-5. doi: 10.1002/ajmg.a.35232. Epub 2012 Mar 9.

Abstract

We here report on a 20-year-old female patient with EDS due to a homozygous CHST14 single nucleotide deletion resulting in D4ST-1 deficiency, accompanied by muscle hypoplasia and muscle weakness. Findings of muscle ultrasound, electromyography, and muscle biopsy pointed to a myopathy, similarly as in other EDS types. This myopathy probably contributes to the gross motor developmental delay in this type of EDS.

Publication types

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

MeSH terms

  • Ehlers-Danlos Syndrome / genetics*
  • Ehlers-Danlos Syndrome / pathology*
  • Female
  • Humans
  • Muscle Weakness / genetics*
  • Polymorphism, Single Nucleotide
  • Sequence Deletion
  • Sulfotransferases / deficiency
  • Sulfotransferases / genetics*
  • Young Adult

Substances

  • Sulfotransferases
  • dermatan-4-sulfotransferase-1