Associated Papers
Clinical and molecular spectrum of an Iranian Charcot-Marie-Tooth 2T cohort, and the diagnostic importance of whole exome sequencing in identifying co-occurrence inherited disorders.
Salami Z et al.
Neuromuscular Disorders : Nmd, 2025
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
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
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
Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.
Higuchi Y et al.
Annals of Neurology, 2016
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