Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE
作者： Steven E Boyden , Anna R Duncan , Elicia A Estrella , Hart GW Lidov , Lane J Mahoney
关键词: Hereditary inclusion body myopathy 、 Human genetics 、 Myositis 、 Myopathy 、 Biology 、 Genetic testing 、 Bioinformatics 、 Genetics 、 Genetic linkage 、 Mutation (genetic algorithm) 、 Splice site mutation
摘要: Background Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family which five siblings presented with distal muscle weakness of unknown etiology.
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