ArticleJournal of neurology, neurosurgery, and psychiatry1997
Mutilating neuropathic ulcerations in a chromosome 3q13-q22 linked Charcot-Marie-Tooth disease type 2B family.
Article in Journal of neurology, neurosurgery, and psychiatry, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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11 citing papers in PubMed, 64 citations in OpenAlex.
- Regulation of Endosomal Trafficking by Rab7 and Its Effectors in Neurons: Clues from Charcot-Marie-Tooth 2B Disease.Biomolecules · 2023Review
- Article
- A review of genetic counseling for Charcot Marie Tooth disease (CMT).Journal of genetic counseling · 2013Review
- Inherited peripheral neuropathies.Neurologic clinics · 2013Review
- Hereditary sensory neuropathy type I.Orphanet journal of rare diseases · 2008Review
- Molecular genetics of hereditary sensory neuropathies.Neuromolecular medicine · 2006Review
- Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.American journal of human genetics · 2003Article
- Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe.American journal of human genetics · 2001Article
- A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.American journal of human genetics · 2000Article
- Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)American journal of human genetics · 2000Article
- Factors Affecting Phenotype Variability in a Family with CMT2B: Gender and LRSAM1 Genotype.Case reports in neurologyArticle
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCharcot-Marie-Tooth disease type 2 (CMT2) or hereditary motor and sensory neuropathy type II (HMSN II) is an inherited axonal neuropathy of the peripheral nervous system. Three autosomal dominant CMT2 loci have been located on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), and 7p14 (CMT2D) indicating that CMT2 is a genetically heterogeneous disorder.
methodsA CMT2 family was examined for linkage to the CMT2A, CMT2B, and CMT2D loci using short tandem repeat polymorphisms.
resultsSuggestive evidence for linkage to 3q13-q22 was found. Recombinations occurred with markers D3S1769 and D3S1267 indicating that the CMT2B locus is located distal to D3S1267 and resides in an interval of 25 cM. Some patients in this family have pronounced sensory disturbances leading to poorly healing ulcerations.
conclusionsThese unusual sensory signs for CMT were also noted in the only other CMT2B family reported so far, suggesting a distinct clinical phenotype for CMT2B. Exclusion of the locus for hereditary sensory neuropathy type I (HSN I) on chromosome 9q22 indicates that HSN I with mild motor symptoms and CMT2 with prominent sensory abnormalities are not allelic.
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