Giant axonal neuropathy: clinical and genetic study in six cases

Background: Giant axonal neuropathy (GAN) is a severe recessive disorder characterised by variable combination of progressive sensory motor neuropathy, central nervous system (CNS) involvement, and "frizzly" hair. The disease is caused by GAN gene mutations on chromosome 16q24.1. Aims: To...

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主要な著者: Demir, E, Bomont, P, Erdem, S, Cavalier, L, Demirci, M, Kose, G, Muftuoglu, S, Cakar, A, Tan, E, Aysun, S, Topcu, M, Guicheney, P, Koenig, M, Topaloglu, H
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2005
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Paper
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1739689/
https://ncbi.nlm.nih.gov/pubmed/15897506
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2003.035162
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