A novel mutation in the FGD4 gene causing Charcot-Marie-Tooth disease

J Peripher Nerv Syst. 2017 Sep;22(3):224-225. doi: 10.1111/jns.12222.

Authors

Panagiotis Zis^{1

2}, Mary M Reilly³, Dasappaiah G Rao¹, Pedro Tomaselli³, Alex M Rossor³, Marios Hadjivassiliou^{1

2}

Affiliations

¹ Academic Department of Neurosciences, Sheffield Teaching Hospitals NHS Foundation Trust.
² University of Sheffield.
³ MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, UK.

No abstract available

Keywords: CMT; FGD4 gene; mutation; neuropathy.

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Charcot-Marie-Tooth Disease / diagnosis*
Charcot-Marie-Tooth Disease / genetics
Charcot-Marie-Tooth Disease / physiopathology
Female
Humans
Microfilament Proteins / genetics*
Middle Aged
Mutation

Substances

FGD4 protein, human
Microfilament Proteins

Grants and funding