Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in <it>GNE</it>

• Main Authors: Mahoney Lane J (Author), Lidov Hart GW (Author), Estrella Elicia A (Author), Duncan Anna R (Author), Boyden Steven E (Author), Katz Jonathan S (Author), Kunkel Louis M (Author), Kang Peter B (Author)
• Format: Book
• Published: BMC, 2011-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods<...