This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator.
The aim of this project is to identify novel gene loci and gene identities in large Utah kindreds as well as to describe novel mutations and unusual phenotypic features of inherited neuropathies, especially the most common form, hereditary motor and sensory neuropathy or Charcot-Marie-Tooth neuropathy. Charcot-Marie-Tooth neuropathy (CMT) is a genetically heterogeneous group of disorders with autosomal dominant, recessive and X-linked forms of inheritance. Defects in eight different genes have been identified for the autosomal dominant form and multiple chromosomal loci have been described which have notyet been associated with specific genes. Further identification of genes responsible for these different forms of CMT will likely shed light on the significance of this genetic heterogeneity. Specific steps in this project include the identification and clinical description of families, linkage analysis to map their genetic defects, and characterization of their associated molecular defects.
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