Végtagövi izomdisztrófiát okozó kalpaindefektus egy magyar családban.

Rita Horvath, Maggie C. Walter, Hanns Lochmüller, Angela Hübner, Veronika Karcagi, Henriett Pikó, László Timár, Sámuel Komoly

Research output: Article

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.

Translated title of the contributionCalpain-3 gene defect causing limb gird muscular dystrophy in a Hungarian family
Original languageHungarian
Pages (from-to)52-58
Number of pages7
JournalIdeggyógyászati szemle
Volume58
Issue number1-2
Publication statusPublished - jan. 20 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Végtagövi izomdisztrófiát okozó kalpaindefektus egy magyar családban.'. Together they form a unique fingerprint.

  • Cite this

    Horvath, R., Walter, M. C., Lochmüller, H., Hübner, A., Karcagi, V., Pikó, H., Timár, L., & Komoly, S. (2005). Végtagövi izomdisztrófiát okozó kalpaindefektus egy magyar családban. Ideggyógyászati szemle, 58(1-2), 52-58.