Article
Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).
Metabolic brain disease - 1 Aug 2023
Gharesouran Jalal, Hosseinzadeh Hassan, Naghiloo Ali, Ghafouri-Fard Soudeh, Hussen Bashdar Mahmud, Taheri Mohammad, Rezazadeh Maryam, Samadian Mohammad
Abstract excerpt
Charcot-Marie-Tooth (CMT) comprises a group of hereditary neuropathies with clinical, epidemiological, and molecular heterogeneity in which variants in more than 80 different genes have been reported. One of the important genes which cause 5% of all CMT cases is Myelin protein zero (P0, MPZ). Variants in this gene have been reported in association with different forms of CMT including classical CMT1, severe DSS...
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