Clinical, electrophysiological and pathological findings in a patient with Charcot-Marie-Tooth disease 4D caused by the NDRG1 Lom mutation

J Neurol Sci. 2014 Oct 15;345(1-2):271-3. doi: 10.1016/j.jns.2014.07.042. Epub 2014 Jul 30.

Authors

Affiliations

¹ Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. Electronic address: mluigetti@gmail.com.
² Unit of Genetics of Neurodegenerative and Metabolic Diseases, Carlo Besta Neurological Institute IRCCS Foundation, Milan, Italy.
³ Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.
⁴ Institute of Paediatric Neurology, Catholic University, Rome, Italy.

PMID: 25108819
DOI: 10.1016/j.jns.2014.07.042

No abstract available

Keywords: CMT4D; Charcot–Marie–Tooth; Electromyography; Lom type; NDRG1; Nerve biopsy.

Publication types

Case Reports
Letter

MeSH terms

Brain / pathology
Cell Cycle Proteins / genetics*
Charcot-Marie-Tooth Disease* / diagnosis
Charcot-Marie-Tooth Disease* / genetics
Charcot-Marie-Tooth Disease* / physiopathology
Female
Humans
Intracellular Signaling Peptides and Proteins / genetics*
Magnetic Resonance Imaging
Mutation / genetics*
Neural Conduction / genetics
Sural Nerve / pathology
Sural Nerve / ultrastructure
Young Adult

Substances

Cell Cycle Proteins
Intracellular Signaling Peptides and Proteins
N-myc downstream-regulated gene 1 protein