A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.
Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly-progressive dystrophy.
van der Kooi
A J
AJ
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands.
de Visser
M
M
van Meegen
M
M
Ginjaar
H B
HB
van Essen
A J
AJ
Jennekens
F G
FG
Jongen
P J
PJ
Leschot
N J
NJ
Bolhuis
P A
PA
D000293:Adolescent; D002648:Child; D003598:Cytoskeletal Proteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D018450:Disease Progression; D016189:Dystrophin / Q000235:genetics* / Q000378:metabolism; D004576:Electromyography; D005121:Extremities / Q000000981:diagnostic imaging / Q000503:physiopathology*; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007150:Immunohistochemistry; D008562:Membrane Glycoproteins / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D018895:Microsatellite Repeats; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000000981:diagnostic imaging / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D009154:Mutation; D009426:Netherlands; D010375:Pedigree; D049031:Sarcoglycans; D014057:Tomography, X-Ray Computed
D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans