title: Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene.
abstract: Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of inherited neuromuscular disorders characterized by proximal muscular weakness of the pelvic and shoulder girdles and a variable progression with symptoms, ranging from very severe to mild. One autosomal dominant (LGMD1A, at chromosome 5q22.3-31.3) (ref. 3) and five autosomal recessive (AR) loci responsible for this phenotype have been identified: LGMD2A at 15q (ref. 4); LGMD2B at 2p (ref. 5), LGMD2C at 13q (ref. 6), LGMD2D at 17q (ref. 7) and LGMD2E at 4q (refs 8,9). In the muscle membrane, dystrophin associates with several proteins and glycoproteins organized in two main subcomplexes: the dystroglycan (DG) and sarcoglycan (SG) complexes. The genes for LGMD2C, LGMD2D and LGMD2E code for proteins of the SG complex. We recently mapped a sixth AR form of LGMD, LGMD2F, to chromosome 5q33-34 in two Brazilian families. In the same chromosomal interval we also mapped the delta SG gene, encoding a novel 35-kD component of the sarcoglycan (SG) complex. We now show that a homozygous mutation in the delta SG gene (a single nucleotide deletion that alters its reading frame) is the cause of LGMD2F.
authors.affiliation: Istituto di Patologia Generale e Oncologia, Facoltá di Medicina, Seconda Universitá degli studi di Napoli, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Nigro
authors.forename: E
authors.initials: E
authors.lastname: de Sá Moreira
authors.forename: G
authors.initials: G
authors.lastname: Piluso
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.forename: A
authors.initials: A
authors.lastname: Belsito
authors.forename: L
authors.initials: L
authors.lastname: Politano
authors.forename: A A
authors.initials: AA
authors.lastname: Puca
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: M
authors.initials: M
authors.lastname: Zatz
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000032:analysis / Q000235:genetics*; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000235:genetics; D016189:Dystrophin / Q000032:analysis; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000032:analysis / Q000235:genetics*; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D010388:Pelvis; D049031:Sarcoglycans; D012508:Sarcolemma / Q000737:chemistry; D012782:Shoulder
chemical_list: D003598:Cytoskeletal Proteins; D018076:DNA, Complementary; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans