Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4)

Author:

Piscosquito Giuseppe1,Saveri Paola1,Magri Stefania2,Ciano Claudia3,Gandioli Claudia4,Morbin Michela5,Bella Daniela D.2,Moroni Isabella4,Taroni Franco2,Pareyson Davide1

Affiliation:

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

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

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

4. Division of Child Neurology, Department of Pediatric Neurosciences; IRCCS Foundation, “C. Besta” Neurological Institute; Milan Italy

5. Division of Neurology and Neuropathology; Department of Diagnostics and Applied Technology; IRCCS Foundation, “C. Besta” Neurological Institute; Milan Italy

Funder

National Institutes of Health

Muscular Dystrophy Association

Charcot-Marie-Tooth Association of the United States

Italian Ministry of Health

EuroSCAR

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

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