Article
Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency.
Neurology - 13 Dec 2011
Guergueltcheva V, Peeters K, Baets J, Ceuterick-de Groote C, Martin J J, Suls A, De Vriendt E, Mihaylova V, Chamova T, Almeida-Souza L, Ydens E, Tzekov C, Hadjidekov G, Gospodinova M, Storm K, Reyniers E, Bichev S, van der Ven P F M, Fürst D O, Mitev V, Lochmüller H, Timmerman V, Tournev I, De Jonghe P, Jordanova A
Abstract excerpt
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....
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