ArticleAnnals of neurology2019
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
Article in Annals of neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Mitochondrial dysfunction, metabolic quiescence and premature senescence in CMT4B3 fibroblasts.Human molecular genetics · 2026Article
- The CCC complex directs phagosomal maturation and bactericidal activity in macrophages through PI(3)P regulation.bioRxiv : the preprint server for biology · 2025Article
- Feasibility, Validity, and Reliability of the Virtual CMT Infant Toddler Scale (vCMTInfS): A Remote Evaluation of Infants/Toddlers With CMT.Journal of the peripheral nervous system : JPNS · 2025Article
- Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders.Journal of inherited metabolic disease · 2025Review
- Disease Progression in Charcot-Marie-Tooth Disease Type 4B (CMT4B) Associated With Mutations in Myotubularin-Related Proteins 2 and 13.European journal of neurology · 2025Article
- Niacin ameliorates Charcot-Marie-Tooth 4B1 neuropathy without interfering with nerve regeneration.Brain communications · 2025Article
- Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.European journal of neurology · 2025Article
- Identification of a Novel Homozygous Mutation inThe application of clinical genetics · 2024Article
- A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.Journal of neuromuscular diseases · 2024Article
- Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.Neuromuscular disorders : NMD · 2023Article
- Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.Annals of neurology · 2023Review
- Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease.Neurology. Clinical practice · 2022Article
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- The Roles of Pseudophosphatases in Disease.International journal of molecular sciences · 2021Review
- Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.BMC medical genomics · 2021Article
- Emerging Therapies for Charcot-Marie-Tooth Inherited Neuropathies.International journal of molecular sciences · 2021Review
- Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.Neurogenetics · 2020Article
- Rab35-regulated lipid turnover by myotubularins represses mTORC1 activity and controls myelin growth.Nature communications · 2020Article
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Authors and funding
42 authors at 20 institutions in 9 countries.
Funding
Abstract
objectiveCharcot-Marie-Tooth (CMT) disease 4B1 and 4B2 (CMT4B1/B2) are characterized by recessive inheritance, early onset, severe course, slowed nerve conduction, and myelin outfoldings. CMT4B3 shows a more heterogeneous phenotype. All are associated with myotubularin-related protein (MTMR) mutations. We conducted a multicenter, retrospective study to better characterize CMT4B.
methodsWe collected clinical and genetic data from CMT4B subjects in 18 centers using a predefined minimal data set including Medical Research Council (MRC) scores of nine muscle pairs and CMT Neuropathy Score.
resultsThere were 50 patients, 21 of whom never reported before, carrying 44 mutations, of which 21 were novel and six representing novel disease associations of known rare variants. CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. Vocal cord involvement was common in both subtypes, whereas glaucoma occurred in CMT4B2 only. Nerve conduction velocities were similarly slowed in both subtypes. Regression analyses showed that disease severity is significantly associated with age in CMT4B1. Slopes are steeper for CMT4B1, indicating faster disease progression. Almost none of the mutations in the MTMR2 and MTMR13 genes, responsible for CMT4B1 and B2, respectively, influence the correlation between disease severity and age, in agreement with the hypothesis of a complete loss of function of MTMR2/13 proteins for such mutations.
interpretationThis is the largest CMT4B series ever reported, demonstrating that CMT4B1 is significantly more severe than CMT4B2, and allowing an estimate of prognosis. ANN NEUROL 2019.
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