Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders caused by mutations in at least 100 genes. However, approximately 60% of cases with axonal neuropathies (CMT2) still remain without a genetic diagnosis. We aimed at identifying novel disease genes responsible for CMT2.
Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy / Cipriani, S., Guerrero-Valero, M., Tozza, S., Zhao, E., Vollmer, V., Beijer, D., Danzi, M., Rivellini, C., Lazarevic, D., Pipitone, G.B., Grosz, B.R., Lamperti, C., Marzoli, S.B., Carrera, P., Devoto, M., Pisciotta, C., Pareyson, D., Kennerson, M., Previtali, S.C., Zuchner, S., et al.. - In: EUROPEAN JOURNAL OF NEUROLOGY. - ISSN 1351-5101. - 30:2(2023), pp. 511-526. [10.1111/ene.15601]
Mutations in MYO9B are associated with CMT2 neuropathies and isolated optic atrophy
Tozza, Stefano;Pisciotta, Chiara;Manganelli, Fiore;
2023
Abstract
Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of disorders caused by mutations in at least 100 genes. However, approximately 60% of cases with axonal neuropathies (CMT2) still remain without a genetic diagnosis. We aimed at identifying novel disease genes responsible for CMT2.| File | Dimensione | Formato | |
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