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Alphabet soup: making sense of genetic testing in CMT
Victoria Lawson1, Shahram Gharibshahi
1Department of Neurology, The Ohio State University, Columbus, Ohio, USA. victoria.lawson@osumc.edu
Abstract:
The diagnosis of inherited neuropathies can be challenging in several ways. First, a hereditary neuropathy must be suspected. Although some family histories are clear with multiple members affected, other families require directed inquiry. Second, even when a hereditary neuropathy is clear, it can be difficult to make a genetic characterization. The field of genotyping is expanding so rapidly, it is difficult to know what tests to order. The authors share their guidelines for the diagnosis of inherited neuropathies.
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