A novel mutation in the desmin gene DES cause an autosomal recessive form of limb girdle muscular dystrophy type 2R without clear cut desminopathy pathology.


Hayta B., Puralı N., Tan M. E., Erdem Özdamar S., Talim B., Korkusuz P., ...More

ESHG, Barcelona, Spain, 21 May 2016, pp.45

  • Publication Type: Conference Paper / Summary Text
  • City: Barcelona
  • Country: Spain
  • Page Numbers: pp.45
  • Hacettepe University Affiliated: Yes