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A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot–Marie–Tooth disease with irregularly folded myelin sheaths

Myelin SheathsMendelian DisorderMyotubularin-related Protein 2Genetic DisorderMedicineGeneticsPathogenesisPathologyDegenerative DiseaseDisease Gene IdentificationNeuropathologyRecessive Charcot–marie–tooth DiseaseNeurogenetics