Publication:

Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family (2005)

Author(s): Horvath R, Walter MC, Lochmuller H, Hubner A, Karcagi V, Piko H, Timar L, Komoly S

  • : [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]

Abstract: Limb gird muscular dystrophies (LGMD2) are a clinically and genetically heterogeneous group of hereditary diseases with autosomal recessive trait, characterized by progressive atrophy and weakness predominantly in the proximal limb muscles. The authors present clinical, histological, immunohistochemical and immunoblot results of two sisters suffering from so far unclassified autosomal recessive limb girdle muscular dystrophy. Haplotype analysis for genes possibly involved in autosomal recessive limb girdle muscular dystrophies was performed in the genetically informative family. All of the results pointed to a molecular genetic defect of the calpain-3 (CAPN3) gene. Direct sequencing of the CAPN3 gene revealed compound heterozygous state for two mutations previously described in association with limb girdle muscular dystrophy, proving pathogenicity. The authors would like to emphasize the importance of the above described combined strategy in diagnosing limb girdle muscular dystrophies.

Notes: Vegtagovi izomdisztrofiat okozo kalpaindefektus egy magyar csaladban.

  • Short Title: [Calpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family]
  • Date: January 2005
  • Journal: Ideggyogyaszati szemle
  • Volume: 58
  • Issue: 1-2
  • Pages: 52-58
  • Publisher: Ifjusagi Lap-es Konyvkiado Vallalat
  • Publication type: Article
  • Bibliographic status: Published

Keywords: Adult Blotting, Western Calpain/ genetics Extremities Female Genetic Markers Haplotypes Humans Hungary Linkage (Genetics) Muscular Dystrophies/ genetics Pedigree

Staff

Professor Hanns Lochmuller
Professor of Experimental Myology