Associated Papers
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer H et al.
Journal of Medical Genetics, 2022
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Senderek J et al.
Neurology, 2020
Variants in MME are associated with autosomal-recessive distal hereditary motor neuropathy.
Hong D et al.
Annals of Clinical and Translational Neurology, 2019
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies.
Auer-Grumbach M et al.
American Journal of Human Genetics, 2016
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