Mutational mechanisms in MFN2 -related neuropathy: compound heterozygosity for recessive and semidominant mutations-Reference-Cited by-同舟云学术

Mutational mechanisms in MFN2 -related neuropathy: compound heterozygosity for recessive and semidominant mutations

Published:2015-12 Issue:4 Volume:20 Page:380-386
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Piscosquito Giuseppe¹,Saveri Paola¹,Magri Stefania²,Ciano Claudia³,Di Bella Daniela²,Milani Micaela²,Taroni Franco²,Pareyson Davide¹

Affiliation:

1. Department of Clinical Neurosciences, Clinic of Central and Peripheral Degenerative Neuropathies Unit; IRCCS Foundation, C. Besta Neurological Institute; Milan Italy

2. Department of Diagnostics and Applied Technology, Unit of Genetics of Neurodegenerative and Metabolic Disease; IRCCS Foundation, C. Besta Neurological Institute; Milan Italy

3. Department of Diagnostics and Applied Technology, Neurophysiopathology and Epilepsy Centre; IRCCS Foundation, C. Besta Neurological Institute; Milan Italy

Funder

National Institutes of Health

Muscular Dystrophy Association

CMTA Charcot-Marie-Tooth Association of the United States

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jns.12145/fullpdf

Reference20 articles.

1. A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs;Ajroud-Driss;Neurogenetics,2009