@article {174,
	title = {Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.},
	journal = {Hum Genet},
	volume = {134},
	year = {2015},
	month = {2015 Jun},
	pages = {671-3},
	abstract = {<p>Charcot-Marie-Tooth disease is a heterogeneous group of inherited distal symmetric polyneuropathies associated with mutations in genes encoding components essential for normal functioning of the Schwann cell and axon. TRIM2, encoding a ligase that ubiquitinates the neurofilament light chain, was recently associated with early-onset neuropathy in a single patient. We report a TRIM2 homozygous missense mutation (c.2000A>C; p.D667A) in a patient with peripheral neuropathy and bilateral vocal cord paralysis, allowing for further delineation of the associated phenotypic spectrum. </p>},
	keywords = {Adult, Charcot-Marie-Tooth Disease, Exome, Female, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Infant, Newborn, Male, Mutation, Missense, Nuclear Proteins, Vocal Cord Paralysis},
	issn = {1432-1203},
	doi = {10.1007/s00439-015-1548-3},
	author = {Pehlivan, Davut and Coban Akdemir, Zeynep and Karaca, Ender and Bayram, Yavuz and Jhangiani, Shalini and Yildiz, Edibe Pembegul and Muzny, Donna and Uluc, Kayihan and Gibbs, Richard A and Elcioglu, Nursel and Lupski, James R and Harel, Tamar}
}
