title: [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.
authors.affiliation: Jahn Ferenc Dél-pesti Kórház, Neurológiai Osztály, Budapest. horváth@lmb.uni-muenchen.de
authors.forename: Rita
authors.initials: R
authors.lastname: Horváth
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Angela
authors.initials: A
authors.lastname: Hübner
authors.forename: Veronika
authors.initials: V
authors.lastname: Karcagi
authors.forename: Henriett
authors.initials: H
authors.lastname: Pikó
authors.forename: László
authors.initials: L
authors.lastname: Timár
authors.forename: Sámuel
authors.initials: S
authors.lastname: Komoly
mesh_terms: D000328:Adult; D015153:Blotting, Western; D002154:Calpain / Q000235:genetics*; D005121:Extremities; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D006814:Hungary; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers; D002154:Calpain