ReviewBrain research2012
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
Review in Brain research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
55 citing papers in PubMed, 2 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- Systematic review of CMTX1 patients with episodic neurological dysfunction.Annals of clinical and translational neurology · 2021Pooled it
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).Neurology · 2017Trial
- Myelination and Remyelination in Peripheral Nerve Injury: Mechanisms, Regulation, and Therapeutic Perspectives.MedComm · 2026Review
- Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Evaluating Cochlear Implantation Outcomes in Charcot-Marie-Tooth Disease: A Case Series Analysis of Genetic Profiles and Intervention Timing.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026Article
- Lipid dependence of connexin-32 gap junction channel conformations.Nature communications · 2025Article
- Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.BMC neurology · 2025Article
- Review
- Hereditary spastic paraplegia and extensive leukoencephalopathy: a case report of a unique phenotype associated with a GJB1/Cx32 p.Pro174Ser variant.BMC neurology · 2024Article
- Assessment of blood-brain barrier leakage and brain oxygenation in Connexin-32 knockout mice with systemic neuroinflammation using pulse electron paramagnetic resonance imaging techniques.Magnetic resonance in medicine · 2024Article
- Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.Internal medicine (Tokyo, Japan) · 2024Article
- Measuring Connexin Hemichannel Opening in Response to an InsP3-Mediated Cytosolic CaMethods in molecular biology (Clifton, N.J.) · 2024Article
- Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain : a journal of neurology · 2023Article
- Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy.Molecular therapy. Methods & clinical development · 2023Article
- Structures of wild-type and selected CMT1X mutant connexin 32 gap junction channels and hemichannels.Science advances · 2023Article
- Sexually Dimorphic Alterations in the Transcriptome and Behavior with Loss of Histone DemethylaseCells · 2023Article
- Pharmacologic Targeting of the C-Terminus of Heat Shock Protein 90 Improves Neuromuscular Function in Animal Models of Charcot Marie Tooth X1 Disease.ACS pharmacology & translational science · 2023Article
- Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.Neurogenetics · 2022Article
- GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.Journal of the peripheral nervous system : JPNS · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 3 institutions in 2 countries.
Funding
Abstract
The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive weakness, atrophy, and sensory abnormalities that are most pronounced in the distal extremities. Some patients have CNS manifestations. Affected males have moderate to severe symptoms, whereas heterozygous females are usually less affected. Neurophysiology shows intermediate slowing of conduction and length-dependent axonal loss. Nerve biopsies show more prominent axonal degeneration than de/remyelination. Mutations in GJB1, the gene that encodes the gap junction (GJ) protein connexin32 (Cx32) cause CMT1X; more than 400 different mutations have been described. Many Cx32 mutants fail to form functional GJs, or form GJs with abnormal biophysical properties. Schwann cells and oligodendrocytes express Cx32, and the GJs formed by Cx32 play an important role in the homeostasis of myelinated axons. Animal models of CMT1X demonstrate that loss of Cx32 in myelinating Schwann cells causes a demyelinating neuropathy. Effective therapies remain to be developed. This article is part of a Special Issue entitled Electrical Synapses.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.