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Review | 18-May-2018

A role for the GDAP1 gene in the molecular pathogenesis of Charcot-Marie-Tooth disease

In 2002 a series of mutations in the GDAP1 gene were reported in patients suffering from Charcot-Marie-Tooth disease manifesting as early–onset, progressive distal-muscle wasting and weakness. The molecular etiology of Charcot-Marie-Tooth -GDAP1 disease has been elucidated but its pathogenesis remains unclear, especially given the seemingly contradictory function of the GDAP1 protein. Expression of GDAP1 is observed almost exclusively in neuronal cells, however, the GDAP1 protein is present in

Weronika Rzepnikowska, Andrzej Kochański

Acta Neurobiologiae Experimentalis, Volume 78 , ISSUE 1, 1–13

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