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

• मुख्य लेखकों: Mahoney Lane J (लेखक), Lidov Hart GW (लेखक), Estrella Elicia A (लेखक), Duncan Anna R (लेखक), Boyden Steven E (लेखक), Katz Jonathan S (लेखक), Kunkel Louis M (लेखक), Kang Peter B (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2011-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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<...