Fetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies
Corresponding Author
Dr. Marina Mora PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milano, ItalySearch for more papers by this authorDr. Lucia Morandi MD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Luciano Merlini MD
Muscle Clinic, Istituto Ortopedico Rizzoli, Bologna, Italy
Search for more papers by this authorDr. Giuseppe Vita MD
Clinica Neurologica 2, Università di Messina, Messina, Italy
Search for more papers by this authorDr. Alice Baradello MD
Clinica Neurologica 2, Università di Messina, Messina, Italy
Search for more papers by this authorDr. Rita Barresi PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Claudia Di Blasi PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorMs. Flavia Blasevich BS
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Marinella Gebbia PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorMr. Sergio Daniel BS
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Ferdinando Cornelio MD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorCorresponding Author
Dr. Marina Mora PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Via Celoria 11, 20133 Milano, ItalySearch for more papers by this authorDr. Lucia Morandi MD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Luciano Merlini MD
Muscle Clinic, Istituto Ortopedico Rizzoli, Bologna, Italy
Search for more papers by this authorDr. Giuseppe Vita MD
Clinica Neurologica 2, Università di Messina, Messina, Italy
Search for more papers by this authorDr. Alice Baradello MD
Clinica Neurologica 2, Università di Messina, Messina, Italy
Search for more papers by this authorDr. Rita Barresi PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Claudia Di Blasi PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorMs. Flavia Blasevich BS
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Marinella Gebbia PhD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorMr. Sergio Daniel BS
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorDr. Ferdinando Cornelio MD
Department of Neuromuscular Diseases, Istituto Nazionale Neurologico “C. Besta,” Milano, Italy
Search for more papers by this authorAbstract
We have investigated supposed maturational arrest of muscle in ceatronuclear myopathies (CNMs) by characterizing the expression of dystrophin, other cytoskeletal proteins, and fetal myosin in the muscle fibers of 9 CNM patients (4 sporadic, 3 familial, 2 adult sporadic). Dystrophin and β-spectrin localized intracytoplasmically in centrally nucleated fibers. Talin and vinculin were normally expressed. Desmin was radially organized in several fibers in all patients. Scattered vimentin positive fibers were found in 3 cases. Six myotonic dystrophy cases and 4 inflammatory myopathy cases with regenerating fibers were also studied: dystrophin and the membrane cytoskeletal proteins were normally expressed in the former; and dystrophin, spectrin, and vinculin were reduced in the latter. Intracytoplasmic dystrophin is further evidence of maturational arrest in CNMs. Spectrin and dystrophin codistnbute in these pathological conditions as in normal muscle. We conclude that the altered cytoskeletal network found in CNMs likely plays a pathogenetic role in these conditions. © 1994 John Wiley & Sons, Inc.
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