title: Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.
abstract: Autosomal recessive limb-girdle muscular dystrophies (AR LGMD) represent a group of muscle diseases with a wide spectrum of clinical signs, varying from very severe to mild. Four different loci that when mutated cause the AR LGMD phenotype have been mapped or cloned or both: in two of them the linked families seem to have a relatively mild phenotype (LGMD2a and LGMD2b), in the third one the reported linked families show a more severe clinical course (LGMD2c), while mutations in the fourth locus may cause severe or mild phenotypes (LGMD2d). The relative proportion of each of these genetic forms among the LGMD families and whether there are other genes that when mutated cause this phenotype is unknown. The closest available informative markers for each of the mapped AR LGMD genes have been tested in 13 Brazilian families with at least three affected patients. The findings from the present report confirm non-allelic heterogeneity for LGMD and suggest that in our population about 33% of the LGMD families are caused by mutations in the 15q gene, 33% in the 2p gene, 17% by mutations in the adhalin gene, and less than 10% may be by mutations at the 13q locus. They also suggest that there is at least one other gene responsible for this phenotype. In addition, the main clinical features of the different forms are discussed.
authors.affiliation: Dept Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Brazil.
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: E S
authors.initials: ES
authors.lastname: Moreira
authors.forename: S K
authors.initials: SK
authors.lastname: Marie
authors.forename: R
authors.initials: R
authors.lastname: Bashir
authors.forename: L
authors.initials: L
authors.lastname: Vasquez
authors.forename: D R
authors.initials: DR
authors.lastname: Love
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: P
authors.initials: P
authors.lastname: Iughetti
authors.forename: J R
authors.initials: JR
authors.lastname: Oliveira
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: T
authors.initials: T
authors.lastname: Strachan
authors.forename: K
authors.initials: K
authors.lastname: Bushby
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002154:Calpain / Q000172:deficiency / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003241:Consanguinity; D003598:Cytoskeletal Proteins / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000145:classification / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D005819:Genetic Markers; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D002154:Calpain