A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

Cetin N., Balci-Hayta B., Gundesli H., KORKUSUZ P., PURALI N., TALİM B., ...Daha Fazla

Journal of medical genetics, cilt.50, sa.7, ss.437-43, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 50 Sayı: 7
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1136/jmedgenet-2012-101487
  • Dergi Adı: Journal of medical genetics
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.437-43
  • Hacettepe Üniversitesi Adresli: Evet

Özet

Background Autosomal recessive limb girdle muscular dystrophy (LGMD2) is a heterogeneous group of myopathies characterised by progressive muscle weakness involving proximal muscles of the shoulder and pelvic girdles including at least 17 different genetic entities. Additional loci have yet to be identified as there are families which are unlinked to any of the known loci. Here we have investigated a consanguineous family with LGMD2 with two affected individuals in order to identify the causative gene defect.