Associated Papers
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
Grosz BR et al.
Journal of the Peripheral Nervous System : Jpns, 2024
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon.
Høyer H et al.
Journal of Medical Genetics, 2022
A nonsense mutation in MME gene associates with autosomal recessive late-onset Charcot-Marie-Tooth disease.
Jamiri Z et al.
Molecular Genetics & Genomic Medicine, 2022
Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilance.
Nortier JL et al.
Kidney International Reports, 2021
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
Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations.
Lupo V et al.
Journal of Medical Genetics, 2018
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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