Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
- 1 March 1998
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 50 (3), 799-801
- https://doi.org/10.1212/wnl.50.3.799
Abstract
Hereditary motor and sensory neuropathy with focally folded myelin sheaths, or Charcot-Marie-Tooth disease neuropathy type 4B (CMT4B), is a distinct clinical and genetic entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. We previously described a large pedigree with CMT4B and found evidence of linkage to chromosome 11q23. We now describe a second, unrelated family in which two individuals were affected with CMT4B. We exclude the disease locus segregating in this smaller pedigree from the 11q23 region as well as from most of the regions where other CMT loci have been mapped. We thus provide evidence for a second locus causing the CMT4B phenotype.Keywords
This publication has 5 references indexed in Scilit:
- A new look and feelNeurology, 1996
- Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff DiseasesHuman Molecular Genetics, 1996
- Human T cell Leukemia Virus Type I Infection and Chronic MyelopathyBrain Pathology, 1993
- cDNA sequence and localization of polymorphic human cytosolic phosphoenolpyruvate carboxykinase gene (PCK1) to chromosome 20, band q13.31: PCK1 is not tightly linked to maturity-onset diabetes of the youngHuman Molecular Genetics, 1993
- Structural models of primary cell walls in flowering plants: consistency of molecular structure with the physical properties of the walls during growth.The Plant Journal, 1993