ArticleHuman genetics1991
Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fc gamma receptor gene region.
Article in Human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 61 citations in OpenAlex.
- Correlations between clinical, electrophysiological and genetic findings in hereditary motor and sensory neuropathy type I (HMSN I).Pflugers Archiv : European journal of physiology · 1996Trial
- The 2-5A system: modulation of viral and cellular processes through acceleration of RNA degradation.Pharmacology & therapeutics · 1998Review
- Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin.American journal of human genetics · 1996Article
- Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.Human genetics · 1994Article
- Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type 1B.Journal of medical genetics · 1994Article
- Evidence for genetic heterogeneity underlying hereditary neuropathy with liability to pressure palsies.Human 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
- Gene for hereditary neuropathy with liability to pressure palsies (HNPP) maps to chromosome 17 at or close to the locus for HMSN type 1.Human genetics · 1993Article
- Chronic inflammatory demyelinating polyneuropathy or hereditary motor and sensory neuropathy? Diagnostic value of morphological criteria.Acta neuropathologica · 1993Article
- Multicolor fluorescence in situ hybridization and pulsed field electrophoresis dissect CMT1B gene region.Human genetics · 1991Article
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 11 institutions in 3 countries.
Funding
Abstract
The Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy) loci have been reported to be on at least three chromosomes: 1 (CMT1B, HMSN1B), 17 (CMT1A), and X (CMTX). In this study multipoint linkage analysis of two Duffy-linked families given a combined LOD score of 8.65 to establish that the Duffy-linked CMT1B gene exists in the 18 centimorgan region between the antithrombin III gene and the Duffy/sodium-potassium ATPase loci. The simultaneous segregation of polymorphisms near the CMT1A locus on chromosome 17 excludes linkage to this chromosome region in both families. Polymorphic sites that flank the CMT1B gene have been subchromosomally localized to the proximal chromosome-1 long arm (1q21.2----1q25) by spot blot analysis of sorted chromosomes, polymorphic deletion analysis, in situ hybridization, and multipoint linkage analysis.
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