Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.
Pheno- and genotype correlation is attempted in a Dutch cross-sectional study on limb- girdle muscular dystrophy. Sarcoglycans, caveolin-3, calpain-3, and dysferlin were analyzed on muscle tissue. Mutation analysis of the calpain-3, caveolin-3, and fukutin-related protein gene was executed in successive order for all samples. In 51% of all families a classifying diagnosis was made. Several new mutations in LGMD2A, B, and C patients have been found in this population.
van der Kooi
A J
AJ
Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. a.j.kooi@amc.uva.nl
Frankhuizen
W S
WS
Barth
P G
PG
Howeler
C J
CJ
Padberg
G W
GW
Spaans
F
F
Wintzen
A R
AR
Wokke
J H J
JH
van Ommen
G-J B
GJ
de Visser
M
M
Bakker
E
E
Ginjaar
H B
HB
D000293:Adolescent; D000328:Adult; D002154:Calpain / Q000235:genetics; D051244:Caveolin 3 / Q000235:genetics; D002874:Chromosome Mapping; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000503:physiopathology; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009426:Netherlands; D010430:Pentosyltransferases; D010641:Phenotype; D011506:Proteins / Q000235:genetics
C417736:CAV3 protein, human; D051244:Caveolin 3; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D011506:Proteins; C443107:FKRP protein, human; D010430:Pentosyltransferases; C105884:CAPN3 protein, human; D002154:Calpain