A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

Brain. 2018 Sep 1;141(9):e66. doi: 10.1093/brain/awy184.

Authors

Marina L Kennerson^{1

2

3}, Alastair C Corbett^{2

4}, Melina Ellis¹, Gonzalo Perez-Siles^{1

2}, Garth A Nicholson^{1

2

3}

Affiliations

¹ Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, Australia.
² Sydney Medical School, University of Sydney, Sydney, Australia.
³ Molecular Medicine Laboratory, Concord Hospital, Sydney, Australia.
⁴ Department of Neurology, Concord Hospital, Sydney, Australia.

PMID: 29982295
DOI: 10.1093/brain/awy184

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Acetyltransferases
Charcot-Marie-Tooth Disease*
Humans
Intellectual Disability*
Intracellular Signaling Peptides and Proteins
Mutation

Substances

Intracellular Signaling Peptides and Proteins
Acetyltransferases
MCM3AP protein, human