Article
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.
BMC medical genetics - 28 Jun 2011
Boyden Steven E, Duncan Anna R, Estrella Elicia A, Lidov Hart G W, Mahoney Lane J, Katz Jonathan S, Kunkel Louis M, Kang Peter B
Abstract excerpt
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 of candidate genes to identify the genetic defect in the family. Preserved clinical biopsy material was reviewed to...
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