Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy-Reference-Cited by-同舟云学术

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy

Published:2016-10-26 Issue:1 Volume:25 Page:150-152
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Nizon Mathilde,Cogne Benjamin,Vallat Jean-Michel,Joubert Madeleine,Liet Jean-Michel,Simon Laure,Vincent Marie,Küry Sébastien,Boisseau Pierre,Schmitt Sébastien,Mercier Sandra,Bénéteau Claire,Larrose Catherine,Coste Marianne,Latypova Xénia,Péréon Yann,Mussini Jean-Marie,Bézieau Stéphane,Isidor Bertrand

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2016142.pdf

Reference16 articles.

1. Hall JG : Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Pediatr Orthop Part B 1997; 6: 159–166.

2. Warner LE, Mancias P, Butler IJ et al: Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 1998; 18: 382–384.

3. Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR : Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol 2003; 54: 398–402.

4. Nagarajan R, Svaren J, Le N, Araki T, Watson M, Milbrandt J : EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 2001; 30: 355–368.

5. Funalot B, Topilko P, Arroyo MAR et al: Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. Ann Neurol 2012; 71: 719–723.

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