A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness-Reference-Cited by-同舟云学术

A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Published:2015-01-15 Issue:3 Volume:60 Page:161-162
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Pelin Katarina,Kiiski Kirsi,Lehtokari Vilma-Lotta,Wallgren-Pettersson Carina

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2014120.pdf

Reference9 articles.

1. Jin, H. S ., Lee, J. B ., Kim, K ., Lee, K. Y ., Choi, V. N ., Kim, J. S . et al. Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. J. Hum. Genet. 59, 643–647 (2014).

2. Pelin, K . & Wallgren-Pettersson, C . Nebulin—a giant chameleon. Adv. Exp. Med. Biol. 642, 28–39 (2008).

3. Laitila, J ., Hanif, M ., Paetau, A ., Hujanen, S ., Keto, J ., Somervuo, P . et al. Expression of multiple nebulin isoforms in human skeletal muscle and brain. Muscle Nerve 46, 730–737 (2012).

4. Lehtokari, V. L ., Kiiski, K ., Sandaradura, S. A ., Laporte, J ., Repo, P ., Frey, J. A . et al. Mutation Update: the spectra of nebulin variants and associated myopathies. Hum. Mutat. 35, 1418–1426 (2014).

5. Wallgren-Petterson, C ., Lehtokari, V. L ., Kalimo, H ., Paetau, A ., Nuutinen, E ., Hackman, P . et al. Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 130, 1465–1476 (2007).

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1. A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness;Journal of Human Genetics;2015-01-15