Data from: The genetic landscape of axonal neuropathies in the middle aged and elderly: focus on MME (supplementary information)

Michaela Auer-Grumbach
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease onset >35 years. METHODS: We recruited patients, collected clinical data and conducted whole-exome sequencing (WES, n=126) and MME single-gene sequencing (n=104). We further queried WES repositories for MME variants and measured blood levels of the MME-encoded protein neprilysin. RESULTS:...
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