title: Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
abstract: Within a group of 76 sporadic/autosomal recessive limb girdle muscular dystrophy (LGMD) patients we tried to identify those with LGMD type 2C-E. Muscle biopsy specimens of 40 index patients, who had 22 affected sibs, were analyzed immuno-histochemically for the presence of three subunits: alpha-, beta-, and gamma-sarcoglycans. Abnormal sarcoglycan expression was established in eight patients, with six affected sibs. In one patient gamma-sarcoglycan was absent, and both alpha- and beta-sarcoglycans were reduced. In the remaining seven patients gamma-sarcoglycan was (slightly) reduced, and alpha- and beta-sarcoglycans were absent or reduced. By DNA sequencing mutations were detected in one of the three sarcoglycan genes in all eight cases. Three patients had mutations in the alpha-, three in the beta-, and two in the gamma-sarcoglycan gene. The patients with sarcoglycanopathy comprised the more severely affected cases (P=0.04). In conclusion, sarcoglycanopathy was identified in 23 % (14/62) of the autosomal recessive LGMD patients.
authors.affiliation: Department of Human Genetics, Leiden University Medical Centre, The Netherlands. H.B.Ginjaar@kgc.azl.nl
authors.forename: H B
authors.initials: HB
authors.lastname: Ginjaar
authors.forename: A J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: H
authors.initials: H
authors.lastname: Ceelie
authors.forename: A L
authors.initials: AL
authors.lastname: Kneppers
authors.forename: M
authors.initials: M
authors.lastname: van Meegen
authors.forename: P G
authors.initials: PG
authors.lastname: Barth
authors.forename: H F
authors.initials: HF
authors.lastname: Busch
authors.forename: J H
authors.initials: JH
authors.lastname: Wokke
authors.forename: L V
authors.initials: LV
authors.lastname: Anderson
authors.forename: C G
authors.initials: CG
authors.lastname: Bönnemann
authors.forename: M
authors.initials: M
authors.lastname: Jeanpierre
authors.forename: P A
authors.initials: PA
authors.lastname: Bolhuis
authors.forename: A F
authors.initials: AF
authors.lastname: Moorman
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: E
authors.initials: E
authors.lastname: Bakker
authors.forename: G J
authors.initials: GJ
authors.lastname: Ommen
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D003598:Cytoskeletal Proteins / Q000378:metabolism*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000378:metabolism*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism*; D049031:Sarcoglycans
chemical_list: D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans