Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.
Silvia Cipriani,Marta Guerrero-Valero,Stefano Tozza,Edward Zhao,Veith Vollmer,Danique Beijer,Matt Danzi,Cristina Rivellini,Dejan Lazarevic,Giovanni Battista Pipitone,Bianca Rose Grosz,Costanza Lamperti,Stefania Bianchi Marzoli,Paola Carrera,Marcella Devoto,Chiara Pisciotta,Davide Pareyson,Marina Kennerson,Stefano C Previtali,Stephan Zuchner,Steven S Scherer,Fiore Manganelli,Martin Bähler,Alessandra Bolino European journal of neurology（2023）
摘要
Novel or very rare variants in MYO9B are associated with CMT2 and isolated OA.
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关键词
Charcot-Marie-Tooth neuropathy,axonal neuropathy,mutations,myosin
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