A carregar...
Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene
Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented....
Na minha lista:
| Publicado no: | Balkan J Med Genet |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
De Gruyter
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5026271/ https://ncbi.nlm.nih.gov/pubmed/27785400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2015-0088 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|