title: A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients.
abstract: Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by mutations in the calpain 3 (CAPN3) gene. The clinical diagnoses of these cases in Bulgaria are very complicated, no protein analysis on muscular biopsy is available in our country, and genetic tests are the only possibility to clarify the diagnoses in clinically ambiguous cases. We screened 48 unrelated Bulgarian cases with preliminary diagnoses of different types of muscular dystrophy for mutations in the CAPN3 gene. Altogether, 20 families (42%) were found to carry mutations in the CAPN3 gene. Several misdiagnosed cases were clarified. Three novel and six recurrent mutations were identified. In total, 40% of the patients are homozygous for c.550delA, and 70% carry it at least on one allele. The affected group of women in our sample shows later onset, milder clinical manifestation, slower progression, and later invalidization.
authors.affiliation: Laboratory of Molecular Pathology, University Hospital of Obstetrics and Gynecology, Sofia Medical University, 2 Zdrave Str., 1431 Sofia, Bulgaria. todorova_albena@abv.bg
authors.forename: Albena
authors.initials: A
authors.lastname: Todorova
authors.forename: Bilyana
authors.initials: B
authors.lastname: Georgieva
authors.forename: Ivailo
authors.initials: I
authors.lastname: Tournev
authors.forename: Tihomir
authors.initials: T
authors.lastname: Todorov
authors.forename: Nadja
authors.initials: N
authors.lastname: Bogdanova
authors.forename: Vanyo
authors.initials: V
authors.lastname: Mitev
authors.forename: Clemens R
authors.initials: CR
authors.lastname: Mueller
authors.forename: Ivo
authors.initials: I
authors.lastname: Kremensky
authors.forename: Jürgen
authors.initials: J
authors.lastname: Horst
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D002031:Bulgaria; D002154:Calpain / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D017354:Point Mutation; D017384:Sequence Deletion
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain