Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies.
Muscle Nerve
; 24(3): 421-4, 2001 Mar.
Article
em En
| MEDLINE
| ID: mdl-11353430
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Glicoproteínas de Membrana
/
Músculo Esquelético
/
Proteínas do Citoesqueleto
/
Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2001
Tipo de documento:
Article