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A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Limb-girdle muscular dystrophies (LGMD) are genetic disorders characterized by weakness of predominantly proximal limb and trunk muscles due to progressive loss of muscle tissue. Collagen VI-related muscular dystrophies usually display more generalized muscle involvement combined with contractures a...
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| Publicado no: | J Neurol |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6586699/ https://ncbi.nlm.nih.gov/pubmed/30963254 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-019-09307-y |
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