Titinopathy in a Canadian family sharing the British founder haplotype

Can J Neurol Sci. 2014 Jan;41(1):90-4. doi: 10.1017/s0317167100016346.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Canada
  • Connectin / genetics*
  • Founder Effect*
  • Haplotypes / genetics*
  • Humans
  • Male
  • Myopathies, Structural, Congenital / diagnosis
  • Myopathies, Structural, Congenital / genetics
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics

Substances

  • Connectin
  • TTN protein, human

Supplementary concepts

  • Myofibrillar Myopathy