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Case Reports

. 2015;16(7-8):530-1.

doi: 10.3109/21678421.2015.1058397. Epub 2015 Jul 22.

A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient

Paola Origone^{1

2}, Simonetta Verdiani³, Monica Bandettini Di Poggio⁴, Riccardo Zuccarino⁵, Manuela Vignolo⁵, Claudia Caponnetto⁶, Paola Mandich^{2

3}

Affiliations

Affiliations

¹ a Department of Internal Medicine , University of Genoa , Genoa , Italy.
² b U.O. Medical Genetics of IRCCS AOU S. Martino - IST , Genoa , Italy.
³ c Department of Neuroscience , Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa , Genoa , Italy.
⁴ d S.C. Neurologia, Ospedale Santa Corona, Pietra Ligure (SV) , Arenzano (GE) , Italy.
⁵ e Servizio di Riabilitazione Malattie Neuromuscolari, Ospedale 'La Colletta' , Arenzano (GE) , Italy.
⁶ f U.O. Neurology of IRCCS AOU S. Martino - IST, Largo R. Benzi , Genoa , Italy.

PMID: 26199109
DOI: 10.3109/21678421.2015.1058397

Case Reports

A novel Arg147Trp MATR3 missense mutation in a slowly progressive ALS Italian patient

Paola Origone et al. Amyotroph Lateral Scler Frontotemporal Degener. 2015.

. 2015;16(7-8):530-1.

doi: 10.3109/21678421.2015.1058397. Epub 2015 Jul 22.

Authors

Paola Origone^{1

2}, Simonetta Verdiani³, Monica Bandettini Di Poggio⁴, Riccardo Zuccarino⁵, Manuela Vignolo⁵, Claudia Caponnetto⁶, Paola Mandich^{2

3}

Affiliations

¹ a Department of Internal Medicine , University of Genoa , Genoa , Italy.
² b U.O. Medical Genetics of IRCCS AOU S. Martino - IST , Genoa , Italy.
³ c Department of Neuroscience , Rehabilitation, Ophthalmology, Genetics and Maternal Child Health, University of Genoa , Genoa , Italy.
⁴ d S.C. Neurologia, Ospedale Santa Corona, Pietra Ligure (SV) , Arenzano (GE) , Italy.
⁵ e Servizio di Riabilitazione Malattie Neuromuscolari, Ospedale 'La Colletta' , Arenzano (GE) , Italy.
⁶ f U.O. Neurology of IRCCS AOU S. Martino - IST, Largo R. Benzi , Genoa , Italy.

PMID: 26199109
DOI: 10.3109/21678421.2015.1058397

No abstract available

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