Rather mild phenotype in a patient with homozygous null mutations in the alpha-sarcoglycan gene.
Ramelli
Gian Paolo
GP
Joncourt
Franziska
F
Gasperini
Marcella
M
Tonin
Paola
P
Burgunder
Jean Marc
JM
D000328:Adult; D018450:Disease Progression; D049030:Dystroglycans / Q000235:genetics; D005260:Female; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D049031:Sarcoglycans / Q000235:genetics*; D013557:Switzerland
D049031:Sarcoglycans; D049030:Dystroglycans