| Autor: |
Blain Alison M, Straub Volker W |
| Jazyk: |
angličtina |
| Rok vydání: |
2011 |
| Předmět: |
|
| Zdroj: |
Skeletal Muscle, Vol 1, Iss 1, p 13 (2011) |
| Druh dokumentu: |
article |
| ISSN: |
2044-5040 |
| DOI: |
10.1186/2044-5040-1-13 |
| Popis: |
Abstract Mutations in the δ-sarcoglycan gene cause limb-girdle muscular dystrophy 2F (LGMD2F), an autosomal recessive disease that causes progressive weakness and wasting of the proximal limb muscles and often has cardiac involvement. Here we review the clinical implications of LGMD2F and discuss the current understanding of the putative mechanisms underlying its pathogenesis. Preclinical research has benefited enormously from various animal models of δ-sarcoglycan deficiency, which have helped researchers to explore therapeutic approaches for both muscular dystrophy and cardiomyopathy. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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