ArticleAmerican journal of human genetics1990
Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).
Article in American journal of human genetics, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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
20 citing papers in PubMed.
- Accumulation of endogenous LITAF in aggresomes.PloS one · 2012Article
- Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies.American journal of human genetics · 2002Article
- Inherited neuropathies: from gene to disease.Brain pathology (Zurich, Switzerland) · 1999Review
- Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q.American journal of human genetics · 1995Article
- Myelin gene dosage and mutation in the hereditary motor and sensory neuropathies: a review.Journal of neurology, neurosurgery, and psychiatry · 1995Review
- The genetic contribution to the phenotype.Human genetics · 1995Review
- Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.Journal of medical genetics · 1994Article
- Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.Acta neuropathologica · 1994Article
- Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.Proceedings of the National Academy of Sciences of the United States of America · 1993Article
- Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.American journal of human genetics · 1993Article
- Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria.Acta neuropathologica · 1993Article
- Linkage investigation of three putative tuberous sclerosis determining loci on chromosomes 9q, 11q, and 12q. The Tuberous Sclerosis Collaborative Group.Journal of medical genetics · 1992Article
- Duplication within chromosome 17p11.2 in 12 families of French ancestry with Charcot-Marie-Tooth disease type 1a. The French CMT Research Group.Journal of medical genetics · 1992Article
- Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia).Human genetics · 1992Article
- Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.Journal of medical genetics · 1992Article
- Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). HMSN Collaborative Research Group.Journal of medical genetics · 1992Article
- Multicolor in situ hybridization and linkage analysis order Charcot-Marie-Tooth type I (CMTIA) gene-region markers.American journal of human genetics · 1992Article
- Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).American journal of human genetics · 1991Article
- Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.Human genetics · 1991Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
The segregation patterns of DNA markers from the pericentromeric regions of chromosomes 1 and 17 were studied in seven pedigrees segregating an autosomal dominant gene for Charcot-Marie-Tooth neuropathy type I (CMT I; hereditary motor and sensory neuropathy I). A multilocus analysis with four markers (pMCR-3, pMUC10, FY, and pMLAJ1) spanning the pericentromeric region of chromosome 1 excluded the CMT I gene from this region in six pedigrees but gave some evidence for linkage to the region of Duffy in one pedigree. Linkage of the CMT I gene to markers in the pericentromeric region of chromosome 17 (markers pA10-41, pEW301, p3.6, and pTH17.19) was established; however, in these seven pedigrees homogeneity analysis with chromosome 17 markers detected significant genetic heterogeneity. This analysis suggested that three of the seven pedigrees are not linked to this same region. Overall, two of the seven CMT I pedigrees were not linked to markers tested from chromosomes 1 or 17. These results confirm genetic heterogeneity in CMT I and implicate the existence of a third autosomal locus, in addition to a locus on chromosome 17, and a probable locus on chromosome 1. This evidence of etiological heterogeneity, supported by statistical tests, will have to be taken into consideration when fine-structure genetic maps of the regions around CMT I are constructed.
Indexed as
Identifiers
2239969PMC1683894What OpenQuestion holds
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.