A novel X-linked form of congenital fiber-type disproportion
- Author(s)
- Clarke, NF; Smith, RLL; Bahlo, M; North, KN;
- Details
- Publication Year 2005-11,Volume 58,Issue #5,Page 767-772
- Journal Title
- ANNALS OF NEUROLOGY
- Publication Type
- Journal Article
- Abstract
- We describe a four-generation family with a previously unreported form of congenital fiber-type disproportion that follows an X-linked inheritance pattern. Affected male family members have a striking pattern of weakness. From birth there is marked ptosis, facial weakness, poor sucking, hypotonia, respiratory weakness, and relatively preserved limb strength. Most affected male individuals die of respiratory failure within the first months of life. A mild dilated cardiomyopathy developed in infancy in the sole surviving affected male member of this family. Some carrier female individuals manifest milder signs. We have demonstrated linkage to two regions of the X chromosome, Xp22.13 to Xp11.4 and Xq13.1 to Xq22.1, with a maximum logarithm of odds score of 3.25 in the latter region. We propose that clinical clues can differentiate this disorder from other forms of congenital fiber-type disproportion so that affected families can receive appropriate genetic counseling.
- Publisher
- WILEY-LISS
- Keywords
- LINKAGE ANALYSIS; MUTATIONS; PROGRAM; MAPS
- Publisher's Version
- https://doi.org/10.1002/ana.20644
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2005-11-01 12:00:00