Disease: Charcot-Marie-Tooth disease- Type 4B1
- A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
- Confounding clinical presentation and different disease progression in CMT4B1
- Distinct roles for the Charcot-Marie-Tooth disease-causing endosomal regulators Mtmr5 and Mtmr13 in axon radial sorting and Schwann cell myelination
- Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy
- Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies
- Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to <em>MTMR2</em> Mutations and Implications in Membrane Trafficking
- Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1
- Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice
- Mild phenotype of Charcot-Marie-Tooth disease type 4B1
- Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report
- Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease
- Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth
- SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
- SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2
- The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression
- Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature
- Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1