Pelizaeus-merzbacher disease: Clinical and DNA-linkage study of an extended family
- 1 December 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 41 (3) , 355-361
- https://doi.org/10.1002/ajmg.1320410318
Abstract
We describe a 5‐generation family of 6 individuals with Pelizaeus‐Merzbacher disease, Type I. DNA linkage study was done to establish carrier status. Two loci, DXS162 and DXYS1, were informative in this family for carrier determination. The highest lod score is that for PMD‐DXYS1 (Z= 1.421 at θ = 0). The carrier probability can only be defined as likely or unlikely in the absence of an established recombination frequency.Keywords
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