Article
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.
Clinical genetics - 1 Feb 2018
Hartley T, Wagner J D, Warman-Chardon J, Tétreault M, Brady L, Baker S, Tarnopolsky M, Bourque P R, Parboosingh J S, Smith C, McInnes B, Innes A M, Bernier F, Curry C J, Yoon G, Horvath G A, Bareke E, Gillespie M, Majewski J, Bulman D E, Dyment D A, Boycott K M
Abstract excerpt
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more rare conditions where peripheral neuropathy is associated with additional features. There are over 250 genes known to cause IPN-related disorders but it is estimated that in...
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