To establish the consistency of the previously reported pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (RYR1)-related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) findings with clinical and genetic findings.

Klein, A., Jungbluth, H., Clement, E., Lillis, S., Abbs, S., Munot, P., Pane, M., Wraige, E., Schara, U., Straub, V., Mercuri, E. M., Muntoni, F., Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations, <<ARCHIVES OF NEUROLOGY>>, 2011; 68 (9): 1171-1179. [doi:10.1001/archneurol.2011.188] [http://hdl.handle.net/10807/6667]

Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations

Pane, Marika;Mercuri, Eugenio Maria;
2011

Abstract

To establish the consistency of the previously reported pattern of muscle involvement in a large cohort of patients with molecularly defined ryanodine receptor type 1 (RYR1)-related myopathies, to identify possible additional patterns, and to compare magnetic resonance imaging (MRI) findings with clinical and genetic findings.
2011
Inglese
Klein, A., Jungbluth, H., Clement, E., Lillis, S., Abbs, S., Munot, P., Pane, M., Wraige, E., Schara, U., Straub, V., Mercuri, E. M., Muntoni, F., Muscle magnetic resonance imaging in congenital myopathies due to ryanodine receptor type 1 gene mutations, <<ARCHIVES OF NEUROLOGY>>, 2011; 68 (9): 1171-1179. [doi:10.1001/archneurol.2011.188] [http://hdl.handle.net/10807/6667]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/6667
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