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, Silvia; Guerrero-Valero, Marta; Tozza, Stefano; Zhao, Edward; Vollmer, Veith; Beijer, Danique; Danzi, Matt; Rivellini, Cristina; Lazarevic, Dejan; Pipitone, Giovanni Battista; Grosz, Bianca Rose; Lamperti, Costanza; Marzoli, Stefania Bianchi; Carrera, Paola; Devoto, Marcella; Pisciotta, Chiara; Pareyson, Davide; Kennerson, Marina; Previtali, Stefano C; Zuchner, Stephan; Scherer, Steven S; Manganelli, Fiore; Bähler, Martin; Bolino, Alessandra. - 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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