ArticleAmerican journal of human genetics1993
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.
Article in American journal of human genetics, 1993. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 191 citations in OpenAlex.
- A phase III clinical trial of PXT3003 in Chinese patients with Charcot-Marie-Tooth disease type 1A.iScience · 2026Article
- Patient-reported disease burden in the Accelerate Clinical Trials in Charcot-Marie-Tooth Disease Study.Journal of the peripheral nervous system : JPNS · 2024Article
- Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A.European journal of neurology · 2024Article
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- Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Molecular neurobiology · 2017Review
- Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approach.Journal of multidisciplinary healthcare · 2016Review
- Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Characteristics of demyelinating Charcot-Marie-Tooth disease with concurrent diabetes mellitus.International journal of clinical and experimental pathology · 2014Article
- Cryptogenic sensory polyneuropathy.Neurologic clinics · 2013Review
- The landscape of inherited and de novo copy number variants in a Plasmodium falciparum genetic cross.BMC genomics · 2011Article
- Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.Journal of neurology · 2011Article
- Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.European journal of human genetics : EJHG · 2009Article
- PMP22 expression in dermal nerve myelin from patients with CMT1A.Brain : a journal of neurology · 2009Article
- Charcot-Marie-Tooth disease.European journal of human genetics : EJHG · 2009Article
- Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Molecular diagnostics of Charcot-Marie-Tooth disease and related peripheral neuropathies.Neuromolecular medicine · 2006Review
- 17p duplicated Charcot-Marie-Tooth 1A: characteristics of a new population.Journal of neurology · 2005Article
- Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.Journal of medical genetics · 2004Article
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7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. One form of CMT, CMT type 1A, is characterized by uniformly decreased nerve conduction velocities, usually shows autosomal dominant inheritance, and is associated with a large submicroscopic duplication of the p11.2-p12 region of chromosome 17. A cohort of 75 unrelated patients diagnosed clinically with CMT and evaluated by electrophysiological methods were analyzed molecularly for the presence of the CMT1A DNA duplication. Three methodologies were used to assess the duplication: measurement of dosage differences between RFLP alleles, analysis of polymorphic (GT)n repeats, and detection of a junction fragment by pulsed-field gel electrophoresis. The CMT1A duplication was found in 68% of the 63 unrelated CMT patients with electrophysiological studies consistent with CMT type 1 (CMT1). The CMT1A duplication was detected as a de novo event in two CMT1 families. Twelve CMT patients who did not have decreased nerve conduction velocities consistent with a diagnosis of CMT type 2 (CMT2) were found not to have the CMT1A duplication. The most informative molecular method was the detection of the CMT1A duplication-specific junction fragment. Given the high frequency of the CMT1A duplication in CMT patients and the high frequency of new mutations, we conclude that a molecular test for the CMT1A DNA duplication is very useful in the differential diagnosis of patients with peripheral neuropathies.
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8105684PMC1682385W291775309What OpenQuestion holds
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