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

Tozza, Stefano;Pisciotta, Chiara;Manganelli, Fiore;
2022

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/899536
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