Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel-Reference-Cited by-同舟云学术

Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel

Published:2016-11-16 Issue:1 Volume:17 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Aharoni Sharon,Barwick Katy E. S.,Straussberg Rachel,Harlalka Gaurav V.,Nevo Yoram,Chioza Barry A.,McEntagart Meriel M.,Mimouni-Bloch Aviva,Weedon Michael,Crosby Andrew H.

Funder

Medical Research Council

Neurosciences Research Foundation

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-016-0343-x.pdf

Reference21 articles.

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2. Kuhlenbaumer G, Young P, Oberwittler C, Hunermund G, Schirmacher A, Domschke K, Ringelstein B, Stogbauer F. Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. Neurology. 2002;58:1273–6.

3. Koop O, Schirmacher A, Nelis E, Timmerman V, De Jonghe P, Ringelstein B, Rasic VM, Evrard P, Gartner J, Claeys KG, et al. Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord. 2007;17:624–30.

4. Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M. Identification of seven novel mutations in the GAN gene. Hum Mutat. 2003;21:446.

5. Asbury AK, Gale MK, Cox SC, Baringer JR, Berg BO. Giant axonal neuropathy--a unique case with segmental neurofilamentous masses. Acta Neuropathol. 1972;20:237–47.

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