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Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A
BACKGROUND: Limb girdle muscular dystrophy type 2A (LGMD2A) is characterised by wide variability in clinical features and rate of progression. Patients with two null mutations usually have a rapid course, but in the remaining cases (two missense mutations or compound heterozygote mutations) prognosi...
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| Auteurs principaux: | , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Group
2007
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2597960/ https://ncbi.nlm.nih.gov/pubmed/17526799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2007.050328 |
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