@article {510,
	title = {Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.},
	journal = {Mol Genet Metab},
	volume = {125},
	year = {2018},
	month = {2018 11},
	pages = {302-304},
	abstract = {<p>Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c.155T > C, p.(Ile52Thr) that segregates with disease suggesting that PMP2 variants should be considered in patients with neuropathy and that it may be prudent to include in clinical CMT gene panels.</p>},
	issn = {1096-7206},
	doi = {10.1016/j.ymgme.2018.08.005},
	author = {Punetha, Jaya and Mackay-Loder, Loren and Harel, Tamar and Coban-Akdemir, Zeynep and Jhangiani, Shalini N and Gibbs, Richard A and Lee, Ian and Terespolsky, Deborah and Lupski, James R and Posey, Jennifer E}
}
