Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.

  title={Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.},
  author={Velina Guergueltcheva and Kristien Peeters and Jonathan Baets and Chantal Ceuterick-de Groote and Jean Jacques Martin and Arvid Suls and Els De Vriendt and Violeta Mihaylova and Teodora Chamova and Leonardo Almeida-Souza and Elke Ydens and Chr. Tzekov and George Hadjidekov and Mariana Vasileva Gospodinova and Karin Storm and Edwin Reyniers and Stoyan Bichev and Peter F. M. van der Ven and Dieter O. F{\"u}rst and Vanio Mitev and Hanns Lochm{\"u}ller and Vincent Timmerman and Ivailo Tournev and Peter de Jonghe and Albena Jordanova},
  volume={77 24},
OBJECTIVE In this study, we investigated the detailed clinical findings and underlying genetic defect in 3 presumably related Bulgarian families displaying dominantly transmitted adult onset distal myopathy with upper limb predominance. METHODS We performed neurologic, electrophysiologic, radiologic, and histopathologic analyses of 13 patients and 13 at-risk but asymptomatic individuals from 3 generations. Genome-wide parametric linkage analysis was followed by bidirectional sequencing of the… CONTINUE READING
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