title: The frequency of limb girdle muscular dystrophy 2A in northeastern Italy.
abstract: Limb-girdle muscular dystrophy 2A (LGMD2A) is considered to be the most frequent LGMD. Our study surveyed an area in northeastern Italy where an almost complete ascertainment was possible. To identify LGMD2A patients we used a new diagnostic approach, including several molecular and biochemical methods. In 84 screened patients from northeastern Italy, we identified 39 LGMD2A patients, the prevalence of LGMD2A being 9.47 per million. In the Venezia district it appears higher than in other districts of the Veneto region, and in the Friuli region it is three times higher than in Veneto, due to the recurrence of single mutation. Haplotype analysis suggested a founder effect. The population from Venezia and Friuli has a higher risk of being heterozygote for these two mutant alleles than people from the rest of northeastern Italy. Our results indicate that LGMD2A is one of the most frequent autosomal recessive disorders, thus finding its molecular characterization becoming increasingly important.
authors.affiliation: Department of Neurosciences, University of Padova, Padova, Italy. marina.fanin@unipd.it
authors.forename: Marina
authors.initials: M
authors.lastname: Fanin
authors.forename: Anna Chiara
authors.initials: AC
authors.lastname: Nascimbeni
authors.forename: Luigi
authors.initials: L
authors.lastname: Fulizio
authors.forename: Corrado
authors.initials: C
authors.lastname: Angelini
mesh_terms: D000409:Alanine / Q000235:genetics; D001120:Arginine / Q000235:genetics; D015153:Blotting, Western / Q000379:methods; D002154:Calpain / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005973:Glutamine / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics*; D007558:Italy / Q000453:epidemiology; D015810:Linkage Disequilibrium; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics*; D049288:Muscular Dystrophies, Limb-Girdle / Q000453:epidemiology* / Q000235:genetics*; D009154:Mutation; D015995:Prevalence; D012189:Retrospective Studies
chemical_list: D007527:Isoenzymes; D009124:Muscle Proteins; D005973:Glutamine; D001120:Arginine; C105884:CAPN3 protein, human; D002154:Calpain; D000409:Alanine