Molecular Analysis Confirms that FKRP-Related Disorders are Underdiagnosed in Mexican Patients with Neuromuscular Diseases

Neuropediatrics. 2017 Dec;48(6):442-450. doi: 10.1055/s-0037-1607054. Epub 2017 Oct 24.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Diagnosis, Differential
  • Female
  • Humans
  • Male
  • Mexico
  • Mutation*
  • Neuromuscular Diseases / diagnosis*
  • Neuromuscular Diseases / genetics*
  • Neuromuscular Diseases / pathology
  • Neuromuscular Diseases / physiopathology
  • Pentosyltransferases
  • Proteins / genetics*
  • Proteins / metabolism
  • Young Adult

Substances

  • Proteins
  • FKRP protein, human
  • Pentosyltransferases