Articles with "concomitant variants" as a keyword



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One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families

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Published in 2022 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2021.736704

Abstract: Background and Aims Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of inherited peripheral neuropathies. The wide phenotypic variability may not be completely explained by a single mutation. Aims and Methods To explore… read more here.

Keywords: mfn2; charcot marie; mpz; gdap1 ... See more keywords