A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families


DİNÇER P. R. , Akcoren Z., Demir E., Richard I., Sancak O., Kale G., ...More

JOURNAL OF MEDICAL GENETICS, vol.37, no.5, pp.361-367, 2000 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 5
  • Publication Date: 2000
  • Doi Number: 10.1136/jmg.37.5.361
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.361-367
  • Keywords: limb-girdle muscular dystrophy, genetic linkage analysis, sarcolemmal complex proteins, GAMMA-SARCOGLYCAN, BETA-SARCOGLYCAN, CHROMOSOME 2P, GENE, MUTATIONS, MAPS, DEFICIENCY, GLYCOPROTEIN, LINKAGE, COMPLEX
  • Gazi University Affiliated: Yes

Abstract

Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci of LGMD2A-F and protein studies using immunofluorescence and western blotting of the sarcoglycan complex. One index case in each family was investigated thoroughly. The age of onset and the current ages were between 1 1/2 and 15 years and 6 and 36 years, respectively. The classification of families was as follows: calpainopathy 7, dysferlinopathy 3, alpha sarcoglycan deficiency 2, beta sarcoglycan deficiency 7, gamma sarcoglycan deficiency 5, delta sarcoglycan deficiency 1, and merosinopathy 2. There were two families showing an Emery-Dreifuss phenotype and nine showing no linkage to the LGMD2A-F loci, and they had preserved sarcoglycans.