Limb girdle muscular dystrophy 2G in a religious minority of Bulgarian Muslims homozygous for the c.75G>A, p.Trp25X mutation

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • Teodora Chamova - , Medical University Sofia (Author)
  • Stoyan Bichev - , Medical University Sofia (Author)
  • Tihomir Todorov - , Genetic Medico-Diagnostic Laboratory ‘Genica” (Author)
  • Mariana Gospodinova - , Medical Institute of Ministry of Interior Affairs (Author)
  • Ani Taneva - , Medical University Sofia (Author)
  • Kristina Kastreva - , Medical University Sofia (Author)
  • Dora Zlatareva - , Medical University Sofia (Author)
  • Martin Krupev - , Medical University Sofia (Author)
  • Rosen Hadjiivanov - , Multiprofile hospital (Author)
  • Velina Guergueltcheva - , Medical University Sofia (Author)
  • Liliana Grozdanova - , University Hospital “St. George” (Author)
  • Dochka Tzoneva - , Medical University Sofia (Author)
  • Angela Huebner - , Department of Paediatrics, Dresden University of Technology (Author)
  • Maja v. der Hagen - , Dresden University of Technology (Author)
  • Benedikt Schoser - , Ludwig Maximilian University of Munich (Author)
  • Hanns Lochmüller - , University of Freiburg, Barcelona Institute of Science and Technology (BIST) (Author)
  • Albena Todorova - , Genetic Medico-Diagnostic Laboratory ‘Genica”, Department of Medical Chemistry and Biochemistry (Author)
  • Ivailo Tournev - , Medical University Sofia, New Bulgarian University (Author)

Abstract

Mutations in TCAP gene cause autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G), congenital muscular dystrophy and autosomal dominant dilated and hypertrophic cardiomyopathy. We studied 18 affected individuals from 12 pedigrees, belonging to a Bulgarian Muslim minority from the South-West of Bulgaria, homozygous for the c.75G>A, p.Trp25X mutation in TCAP gene. The heterozygous carrier rate of p.Trp25X among 100 newborns in this region was found to be 2%. The clinical features in the Bulgarian TCAP group include disease onset in the first to the third decade of life, proximal muscle weakness in the lower limbs, followed or accompanied by difficulties in ankle dorsiflexion and involvement of the proximal muscles of the upper limbs 5–9 years after the disease onset. Asymmetry between left and right was present in more than 20% of the affected. Respiratory and cardiac functions were not affected. On the MRI the muscles of the posterior pelvic area, thigh and anterior leg were predominantly affected, while sartorius, gracilis and biceps femoris muscles remained relatively spared. In conclusion, LGMD2G appears to be a common form among Bulgarian Muslims. Homozygosity for c.75G>A, p.Trp25X is associated with a homogeneous clinical presentation, but the clinical course and severity of the disease show inter- and intra-familial variation.

Details

Original languageEnglish
Pages (from-to)625-632
Number of pages8
JournalNeuromuscular disorders
Volume28
Issue number8
Publication statusPublished - Aug 2018
Peer-reviewedYes

External IDs

PubMed 29935994

Keywords

Keywords

  • Asymmetry, Bulgarian Muslims, LGMD2G, TCAP gene