Article ID Journal Published Year Pages File Type
6041126 Neuromuscular Disorders 2015 6 Pages PDF
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.
Related Topics
Life Sciences Neuroscience Developmental Neuroscience
Authors
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