Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041126 | Neuromuscular Disorders | 2015 | 6 Pages |
Abstract
We demonstrate the utility of next-generation sequencing in reaching a molecular diagnosis for a heterogeneous condition such as Charcot-Marie-Tooth. Taken together, our data and that from the literature suggest that the spectrum of clinical presentations associated with mutations in IGHMBP2 may be secondary, at least in part, to the amount of residual protein.
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Authors
Justin D. Wagner, Lijia Huang, Martine Tetreault, Jacek Majewski, Kym M. Boycott, Dennis E. Bulman, Care4Rare Canada Consortium Care4Rare Canada Consortium, David A. Dyment, Hugh J. McMillan,