Abstract:
:Mutations in the sarcoglycan (SG) genes cause a subset of limb-girdle muscular dystrophies (LGMD). We report a Spanish patient with progressive LGMD exhibiting an almost isolated loss of gamma-SG and a homozygous Delta521-T mutation in the gamma-SG gene. These results suggest that isolated loss of gamma-SG might remain undetected using only the alpha-SG antibody in routine muscle biopsy studies. Both alpha- and gamma-SG antibodies should be used in the diagnostic detection of patients with LGMD.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Vorgerd M,Gencik M,Mortier J,Epplen JT,Malin JP,Mortier Wdoi
10.1002/1097-4598(200103)24:3<421::aid-mus1016>3.0subject
Has Abstractpub_date
2001-03-01 00:00:00pages
421-4issue
3eissn
0148-639Xissn
1097-4598pii
10.1002/1097-4598(200103)24:3<421::AID-MUS1016>3.0journal_volume
24pub_type
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