A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
Zis, P., Reilly, M.M., Rao, D.G. et al. (3 more authors)
(2017)
A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease.
Journal of the Peripheral Nervous System, 22 (3).
pp. 224-225.
ISSN 1085-9489
Abstract
Demyelinating forms of Charcot-Marie-Tooth (CMT) result from mutations in a number of genes, the majority of which show an autosomal dominant pattern of inheritance [1]. Recessive patterns of inheritance are less common. We report a case of demyelinating CMT resulting from compound heterozygous mutation in the FGD4 gene.
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CORE (COnnecting REpositories)