A novel X-linked form of congenital fiber-type disproportion

被引:17
作者
Clarke, NF
Smith, RLL
Bahlo, M
North, KN
机构
[1] Univ Sydney, Childrens Hosp Westmead, Inst Neuromuscular Res, Discipline Paediat & Child Hlth, Sydney, NSW 2006, Australia
[2] John Hunters Childrens Hosp & Univ, Discipline Paediat & Child Hlth, Newcastle, NSW, Australia
[3] Walter & Eliza Hall Inst Med Res, Melbourne, Vic 3050, Australia
关键词
D O I
10.1002/ana.20644
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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.
引用
收藏
页码:767 / 772
页数:6
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