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A Novel Mutation of the Membrane Metallo-Endopeptidase Gene Related to Late-Onset Hereditary Polyneuropathy: Case Report and Review of the Literature.

Laboratory medicine - 7 Mar 2022

Tsamis Konstantinos I, Xiromerisiou Georgia, Nikas Ilias P, Giannakis Alexandros, Konitsiotis Spiridon, Sarmas Ioannis

Abstract excerpt

The advent of next generation sequencing has revolutionized diagnostic approaches to hereditary polyneuropathies. Recently, mutations on the membrane metallo-endopeptidase (MME) gene, encoding neprilysin, have been related to the development of late-onset Charcot-Marie-Tooth disease type 2 (CMT2). Here, we report the first Greek patient presenting with a slowly progressive late-onset axonal polyneuropathy and a...

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PMID: 34480178
DOI: 10.1093/labmed/lmab060

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