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A novel X‐linked form of congenital fiber‐type disproportion
Author(s) -
Clarke Nigel F.,
Smith Robert L. L.,
Bahlo Melanie,
North Kathryn N.
Publication year - 2005
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20644
Subject(s) - hypotonia , pediatrics , genetic linkage , medicine , x chromosome , weakness , anatomy , genetics , biology , gene
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. Ann Neurol 2005