Novel sarcoglycan gene mutations in a large cohort of Italian patients.
Boito
C
C
Department of Neurological and Psychiatric Sciences, University of Padova, Italy. Department of Neurosciences, University of Pisa, Italy.
Fanin
M
M
Siciliano
G
G
Angelini
C
C
Pegoraro
E
E
D000293:Adolescent; D017668:Age of Onset; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003598:Cytoskeletal Proteins / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D049030:Dystroglycans; D005260:Female; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D007558:Italy; D008297:Male; D008403:Mass Screening / Q000379:methods*; D008562:Membrane Glycoproteins / Q000032:analysis / Q000172:deficiency / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D049030:Dystroglycans