ArticleHuman genetics2004
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
Article in Human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 51 citations in OpenAlex.
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- Clinical diversity caused by novel IGHMBP2 variants.Journal of human genetics · 2017Article
- A novel transgenic mouse model of Chinese Charcot-Marie-Tooth disease type 2L.Neural regeneration research · 2014Article
- A review of genetic counseling for Charcot Marie Tooth disease (CMT).Journal of genetic counseling · 2013Review
- Inherited peripheral neuropathies.Neurologic clinics · 2013Review
- Accumulation of endogenous LITAF in aggresomes.PloS one · 2012Article
- Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.Brain : a journal of neurology · 2011Article
- Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.Current neurology and neuroscience reports · 2011Review
- Mutant HSPB8 causes motor neuron-specific neurite degeneration.Human molecular genetics · 2010Article
- Unraveling the genetics of distal hereditary motor neuronopathies.Neuromolecular medicine · 2006Review
- Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.Human genetics · 2005Article
- Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.Human genetics · 2005Article
- Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.Journal of human genetics · 2005Article
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Authors and funding
14 authors at 4 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders with a prevalence estimated at 1/2500. The axonal form of this disorder is referred to as Charcot-Marie-Tooth type 2 disease (CMT2). Recently, a large Chinese family with CMT2 was found in the Hunan and Hubei provinces of China. The known loci for CMT1A, CMT2D, CMT1B (the same locus is also responsible for CMT2I and CMT2J), CMT2A, CMT2E, and CMT2F were excluded in this family by linkage analysis. A genome-wide screening was then carried out, and the results revealed linkage of CMT2 to a locus at chromosome 12q24. Haplotype construction and analyses localized this novel locus to a 6.8-cM interval between microsatellite markers D12S366 and D12S1611. The maximal two-point LOD score of 6.35 and multipoint LOD score of 8.08 for marker D12S76 at a recombination fraction (theta) of 0 strongly supported linkage to this locus. Thus, CMT2 neuropathy in this family represents a novel genetic entity that we have designated as CMT2L.
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