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Article

A new mutation in DNM2 gene in a large Italian family.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2021

Lopergolo Diego, Bocci Silvia, Pinto Anna Maria, Valentino Floriana, Doddato Gabriella, Ginanneschi Federica, Volpi Nila, Renieri Alessandra, Giannini Fabio

Abstract excerpt

The Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy with great clinical and genetic heterogeneity. Mutations in DNM2 have been associated with CMT dominant intermediate B (CMTDIB). However, mutations in the same gene are known to induce also axonal CMT (CMT2M) or centronuclear myopathy. Moreover, the ability of effectively and simultaneously sequencing different CMT-related...

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PMID: 33459893
DOI: 10.1007/s10072-020-04972-8

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