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New aspects on patients affected by dysferlin deficient muscular dystrophy
Mutations in the dysferlin gene lead to limb girdle muscular dystrophy 2B, Miyoshi myopathy and distal anterior compartment myopathy. A cohort of 36 patients affected by dysferlinopathy is described, in the first UK study of clinical, genetic, pathological and biochemical data. The diagnosis was est...
में बचाया:
| मुख्य लेखकों: | , , , , , , , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
BMJ Group
2009
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2975994/ https://ncbi.nlm.nih.gov/pubmed/19528035 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2009.178038 |
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