Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

• Matteo Garibaldi,
• Fabiana Fattori,
• Carlo Augusto Bortolotti,
• Guy Brochier,
• Clemence Labasse,
• Margherita Verardo,
• Emilia Servian-Morilla,
• Lara Gibellini,
• Marcello Pinti,
• Giulia Di Rocco,
• Salvatore Raffa,
• Elena Maria Pennisi,
• Enrico Silvio Bertini,
• Carmen Paradas,
• Norma Beatriz Romero,
• Giovanni Antonini

Affiliations

Matteo Garibaldi

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant’Andrea Hospital

Fabiana Fattori

Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children’s Hospital

Carlo Augusto Bortolotti

Department of Life Science, University of Modena e Reggio Emilia

Guy Brochier

Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière

Clemence Labasse

Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière

Margherita Verardo

Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children’s Hospital

Emilia Servian-Morilla

Neuromuscular Unit, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla

Lara Gibellini

Department of Medical and Surgical Sciences for Children and Adults, University of Modena and Reggio Emilia

Marcello Pinti

Department of Life Science, University of Modena e Reggio Emilia

Giulia Di Rocco

Department of Life Science, University of Modena e Reggio Emilia

Salvatore Raffa

Laboratory of Ultrastructural pathology, Department of Clinical and Molecular Medicine, SAPIENZA University of Rome, Sant’Andrea Hospital

Elena Maria Pennisi

Unit of Neuromuscular Disorders, Neurology, San Filippo Neri Hospital

Enrico Silvio Bertini

Unit of Neuromuscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children’s Hospital

Carmen Paradas

Neuromuscular Unit, Hospital Universitario Virgen del Rocío/Instituto de Biomedicina de Sevilla

Norma Beatriz Romero

Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière

Giovanni Antonini

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Sant’Andrea Hospital