ArticleAmerican journal of human genetics2000
Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed.
- Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.Neurogenetics · 2026Article
- Screening forFrontiers in neurology · 2023Article
- Novel mutation in theThe Journal of international medical research · 2022Article
- Novel mutation in the periaxin gene causal to Charcot-Marie-Tooth disease type 4F.The Journal of international medical research · 2020Article
- Article
- A review of the diverse genetic disorders in the Lebanese population: highlighting the urgency for community genetic services.Journal of community genetics · 2015Article
- [Genetics of neuropathies].Der Nervenarzt · 2013Review
- Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation.Neurogenetics · 2012Article
- Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases.Journal of biomedicine & biotechnology · 2010Review
- A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12.Neurogenetics · 2008Article
- Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia.American journal of human genetics · 2007Article
- Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.American journal of human genetics · 2007Article
- Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.Neuromolecular medicine · 2006Review
- Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.Neuromolecular medicine · 2006Review
- Autosomal recessive forms of Charcot-Marie-Tooth disease.Current neurology and neuroscience reports · 2004Article
- 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
- Focal lysolecithin-induced demyelination of peripheral afferents results in neuropathic pain behavior that is attenuated by cannabinoids.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2003Article
- Deciphering peripheral nerve myelination by using Schwann cell expression profiling.Proceedings of the National Academy of Sciences of the United States of America · 2002Article
- Periaxin mutations cause recessive Dejerine-Sottas neuropathy.American journal of human genetics · 2001Article
- A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.American journal of human genetics · 2001Article
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10 authors.
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Abstract
Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a large inbred Lebanese family affected with autosomal recessive CMT4, in whom we have excluded linkage to the already-known loci. The results of a genomewide search demonstrated linkage to a locus on chromosome 19q13.1-13.3, over an 8.5-cM interval between markers D19S220 and D19S412. A maximum pairwise LOD score of 5.37 for marker D19S420, at recombination fraction [theta].00, and a multipoint LOD score of 10.3 for marker D19S881, at straight theta = .00, strongly supported linkage to this locus. Clinical features and the results of histopathologic studies confirm that the disease affecting this family constitutes a previously unknown demyelinating autosomal recessive CMT subtype known as "CMT4F." The myelin-associated glycoprotein (MAG) gene, located on 19q13.1 and specifically expressed in the CNS and the peripheral nervous system, was ruled out as being the gene responsible for this form of CMT.
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