ArticleAmerican journal of human genetics1990
Assignment of the Charcot-Marie-Tooth neuropathy type 1 (CMT 1a) gene to 17p11.2-p12.
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 16 papers.
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Who cites it
16 citing papers in PubMed.
- Targeting PI3K/Akt/mTOR signaling in rodent models of PMP22 gene-dosage diseases.EMBO molecular medicine · 2024Article
- Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease.Brain and behavior · 2022Article
- Peripheral myelin protein 22 modulates store-operated calcium channel activity, providing insights into Charcot-Marie-Tooth disease etiology.The Journal of biological chemistry · 2019Article
- A Review of Copy Number Variants in Inherited Neuropathies.Current genomics · 2018Review
- Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.Genes · 2014Article
- The PMP22 gene and its related diseases.Molecular neurobiology · 2013Review
- Screening of the 17p11.2--p12 region in a large cohort of patients with Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to pressure palsies (HNPP).Journal of applied genetics · 2009Article
- Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.American journal of human genetics · 2003Article
- Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a).Journal of neurology, neurosurgery, and psychiatry · 2002Article
- The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.Genome research · 2001Article
- Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.American journal of human genetics · 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
- Charcot-Marie-Tooth (CMT) 1a duplication at 17p11.2 in Italian families.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
- 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
- Subregional localization of the chromosome 21 loci D21S24 and D21S26 using physical mapping techniques.Human genetics · 1991Article
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth disease type 1a (CMT 1a) is an autosomal dominant peripheral neuropathy linked to the DNA markers D17S58 and D17S71, located in the pericentromeric region of the chromosome 17p arm. We analyzed an extended 5-generation Belgian family, multiply affected with CMT 1a, for linkage with eight chromosome 17 markers. The results indicated that the CMT 1a mutation is localized in the chromosomal region 17p11.2-p12 between the marker D17S71 and the gene for myosin heavy polypeptide 2 of adult skeletal muscle.
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