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Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
BACKGROUND: Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS: We performed high-density genomewide linkage analysis and mutation screening...
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Autors principals: | , , , , , , , |
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Format: | Artigo |
Idioma: | Inglês |
Publicat: |
BioMed Central
2011
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Matèries: | |
Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3141630/ https://ncbi.nlm.nih.gov/pubmed/21708040 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-87 |
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