ArticleAmerican journal of human genetics1989
Localization of the mutation in an extended family with Charcot-Marie-Tooth neuropathy (HMSN I).
Article in American journal of human genetics, 1989. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 67 citations in OpenAlex.
- Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Genes · 2014Article
- Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Inherited neuropathies: from gene to disease.Brain pathology (Zurich, Switzerland) · 1999Review
- Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patients.Journal of medical genetics · 1994Article
- Detection of tandem duplications and implications for linkage analysis.American journal of human genetics · 1994Article
- 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
- Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome.Human genetics · 1993Article
- Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.Acta neuropathologica · 1993Article
- 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 disease type 1.Journal of medical genetics · 1992Review
- 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
- Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.Journal of medical genetics · 1991Review
- Hereditary motor and sensory neuropathies.Journal of medical genetics · 1991Review
- Genetic linkage and heterogeneity in type I Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy type I).American journal of human genetics · 1990Article
- Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids.American journal of human genetics · 1990Article
- Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.American journal of human genetics · 1990Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth (CMT) disease is an autosomal dominant peripheral neuropathy. In some CMT families linkage has been reported with either the Duffy blood group or the APOA2 gene, both located on chromosome 1q. More recently, linkage has been found in six CMT families with two chromosome 17p markers. We extensively analyzed a multi-generation Charcot-Marie-Tooth family by using molecular genetic techniques in order to localize the CMT gene defect. First, we constructed a continuous linkage group of 11 chromosome 1 markers and definitely excluded chromosome 1 as the site of mutation. Second, we analyzed the family for linkage with chromosome 17. The two-point lod scores obtained with D17S58 and D17S71 proved that this Charcot-Marie-Tooth family is linked to chromosome 17. Moreover, multipoint linkage results indicated that the mutation is most likely located on the chromosome 17p arm, distal of D17S71.
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2589322PMC1683471W199571026What 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.