Alphabet soup: making sense of genetic testing in CMT.

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.

journal_name

Semin Neurol

journal_title

Seminars in neurology

authors

Lawson V,Gharibshahi S

doi

10.1055/s-0030-1267281

subject

Has Abstract

pub_date

2010-09-01 00:00:00

pages

373-86

issue

4

eissn

0271-8235

issn

1098-9021

journal_volume

30

pub_type

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