ArticleAmerican journal of human genetics2003
Dominant intermediate Charcot-Marie-Tooth type C maps to chromosome 1p34-p35.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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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.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Journal of neurology · 2017Pooled it
- Tyrosine Supplementation Rescues a Growth Defect in a HumanizedInternational journal of molecular sciences · 2026Article
- Replating Induces mTOR-Dependent Rescue of Protein Synthesis in Charcot-Marie-Tooth Diseased Neurons.eNeuro · 2026Article
- Lysosomal transmembrane protein 5: Impact on immune cell function and implications for immune-related deficiencies.Heliyon · 2024Review
- A missense, loss-of-functionCold Spring Harbor molecular case studies · 2022Article
- Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.Journal of anatomy · 2022Article
- Review
- Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?Journal of neurochemistry · 2021Review
- Syndecan-3 contributes to the regulation of the microenvironment at the node of Ranvier following end-to‑side neurorrhaphy: sodium image analysis.Histochemistry and cell biology · 2021Article
- Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.Biochemistry. Biokhimiia · 2021Review
- tRNA Metabolism and Neurodevelopmental Disorders.Annual review of genomics and human genetics · 2019Review
- Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Methods (San Diego, Calif.) · 2017Review
- Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model.PloS one · 2017Article
- Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.Journal of neurology · 2016Article
- Intermediate Charcot-Marie-Tooth disease.Neuroscience bulletin · 2014Review
- Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy.F1000Research · 2014Article
- Accumulation of endogenous LITAF in aggresomes.PloS one · 2012Article
- Article
- Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.Brain : a journal of neurology · 2009Article
- Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant.The Journal of cell biology · 2009Article
Corrections and comments
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Authors and funding
14 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dominant intermediate Charcot-Marie-Tooth (DI-CMT) neuropathy is a genetic and phenotypic variant of classical CMT, characterized by intermediate nerve conduction velocities and histological evidence of both axonal and demyelinating features. We report two unrelated families with intermediate CMT linked to a novel locus on chromosome 1p34-p35 (DI-CMTC). The combined haplotype analysis in both families localized the DI-CMTC gene within a 6.3-cM linkage interval flanked by markers D1S2787 and D1S2830. The functional and positional candidate genes, Syndecan 3 (SDC3), and lysosomal-associated multispanning membrane protein 5 (LAPTM5) were excluded for pathogenic mutations.
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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.