A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

• Annalisa Botta,
• Virginia Veronica Visconti,
• Luana Fontana,
• Paola Bisceglia,
• Paola Bisceglia,
• Mario Bengala,
• Roberto Massa,
• Ilaria Bagni,
• Rosanna Cardani,
• Federica Sangiuolo,
• Federica Sangiuolo,
• Giovanni Meola,
• Giovanni Meola,
• Giovanni Antonini,
• Antonio Petrucci,
• Elena Pegoraro,
• Maria Rosaria D’Apice,
• Giuseppe Novelli,
• Giuseppe Novelli

Affiliations

Annalisa Botta

Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

Virginia Veronica Visconti

Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

Luana Fontana

Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

Paola Bisceglia

Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy

Paola Bisceglia

Research Laboratory, Complex Structure of Geriatrics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy

Mario Bengala

Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy

Roberto Massa

Neuromuscular Disease Unit, Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy

Ilaria Bagni

Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy

Rosanna Cardani

BioCor Biobank, UOC SMEL-1 of Clinical Pathology, IRCCS-Policlinico San Donato, Milan, Italy

Federica Sangiuolo

Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

Federica Sangiuolo

Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy

Giovanni Meola

Department of Biomedical Sciences for Health, University of Milan, Milan, Italy

Giovanni Meola

Department of Neurorehabilitation Sciences, Casa di Cura del Policlinico, Milan, Italy

Giovanni Antonini

Neuromuscular and Rare Disease Center, Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Sant’Andrea Hospital, Sapienza University of Rome, Rome, Italy

Antonio Petrucci

Center for Neuromuscular and Neurological Rare Diseases, S. Camillo Forlanini Hospital, Rome, Italy

Elena Pegoraro

0Department of Neuroscience, University of Padua, Padua, Italy

Maria Rosaria D’Apice

Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy

Giuseppe Novelli

Medical Genetics Section, Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy

Giuseppe Novelli

Laboratory of Medical Genetics, Tor Vergata Hospital, Rome, Italy