Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
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.
Ginjaar
H B
HB
Department of Human Genetics, Leiden University Medical Centre, The Netherlands. H.B.Ginjaar@kgc.azl.nl
van der Kooi
A J
AJ
Ceelie
H
H
Kneppers
A L
AL
van Meegen
M
M
Barth
P G
PG
Busch
H F
HF
Wokke
J H
JH
Anderson
L V
LV
Bönnemann
C G
CG
Jeanpierre
M
M
Bolhuis
P A
PA
Moorman
A F
AF
de Visser
M
M
Bakker
E
E
Ommen
G J
GJ
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
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans