Delta-sarcoglycan-deficient muscular dystrophy: from discovery to therapeutic approaches
- Lookup NU author(s)
- Dr Alison Blain
- Professor Volker Straub
|
|
|
|
| Author(s) | | Straub VW; Blain AM |
| Publication type | | Review |
| Journal | | Skeletal Muscle |
| Year | | 2011 |
| Volume | | 1 |
| Issue | | 1 |
| Pages | | 13 |
| ISSN (electronic) | | 2044-5040 |
|
|
|
| Full text for this publication is not currently held within this repository. Alternative links are provided below where available. |
|
|
|
|
| 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. |
|
|
|
| URL | | http://dx.doi.org/10.1186/2044-5040-1-13 |
| DOI | | 10.1186/2044-5040-1-13 |
|
|
Actions | |   |
