Forty-five years to diagnosis

Neuromuscul Disord. 2013 Jun;23(6):503-5. doi: 10.1016/j.nmd.2013.03.006. Epub 2013 Apr 25.

Abstract

A long lasting journey of almost 45 years led in the end to a diagnosis of a Collagen 6A myopathy. Modern information technology and next generation sequencing made the difference - a very personal report.

Publication types

  • Case Reports

MeSH terms

  • Collagen Type VI / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods
  • Humans
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics*
  • Rare Diseases / diagnosis
  • Sequence Analysis, DNA / methods

Substances

  • Collagen Type VI