Dominant GDAP1 mutations cause predominantly mild CMT phenotypes

OBJECTIVE: Ganglioside-induced differentiation associated-protein 1 (GDAP1) mutations are commonly associated with autosomal recessive Charcot-Marie-Tooth (ARCMT) neuropathy; however, in rare instances, they also lead to autosomal dominant Charcot-Marie-Tooth (ADCMT). We aimed to investigate the fre...

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Main Authors: Zimoń, M., Baets, J., Fabrizi, G.M., Jaakkola, E., Kabzińska, D., Pilch, J., Schindler, A.B., Cornblath, D.R., Fischbeck, K.H., Auer-Grumbach, M., Guelly, C., Huber, N., De Vriendt, E., Timmerman, V., Suter, U., Hausmanowa-Petrusewicz, I., Niemann, A., Kochański, A., De Jonghe, P., Jordanova, A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3272385/
https://ncbi.nlm.nih.gov/pubmed/21753178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318228fc70
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